Unique variants in the HPS5 gene

Information The variants shown are described using the NM_181507.1 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-231T>C r.(?) p.(=) - likely benign g.18343674A>G g.18322127A>G HPS5(NM_007216.3):c.-416T>C (p.(=)) - GTF2H1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.109-10_109-9del r.(=) p.(=) - likely benign g.18333580_18333581del - HPS5(NM_181507.1):c.109-10_109-9delAT - HPS5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.220-14C>T r.(=) p.(=) - benign g.18333012G>A g.18311465G>A HPS5(NM_181507.1):c.220-14C>T - HPS5_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.220-9G>C r.(=) p.(=) - likely benign g.18333007C>G - HPS5(NM_181507.1):c.220-9G>C - HPS5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.240C>T r.(?) p.(Val80=) - benign, likely benign g.18332978G>A g.18311431G>A HPS5(NM_181507.1):c.240C>T (p.V80=) - HPS5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.241G>A r.(?) p.(Ala81Thr) - VUS g.18332977C>T g.18311430C>T HPS5(NM_181507.1):c.241G>A (p.A81T) - HPS5_000051 13 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs147053126 CLASSIFICATION record, Germline - 13/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-/. 1 - c.284+13T>A r.(=) p.(=) - benign g.18332921A>T g.18311374A>T HPS5(NM_181507.1):c.284+13T>A - HPS5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 4i c.285-10A>G r.284_285ins285-9_285-1 p.Ser95_Gln96insSerCysSer - likely pathogenic g.18332490T>C g.18310943T>C - - HPS5_000009 - - - - Germline yes - - - - Joshi Stephen
-/., -?/. 2 - c.309A>G r.(?) p.(Glu103=) - benign, likely benign g.18332456T>C g.18310909T>C HPS5(NM_181507.1):c.309A>G (p.E103=) - HPS5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.345G>A r.(?) p.(Met115Ile) - likely benign g.18332420C>T - HPS5(NM_007216.3):c.3G>A (p.M1?) - HPS5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.468del r.(?) p.(Lys156AsnfsTer10) - pathogenic g.18332299del g.18310752del HPS5(NM_181507.1):c.468delA (p.K156Nfs*10) - HPS5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.580C>T r.(?) p.(Leu194Phe) - likely benign g.18330524G>A g.18308977G>A HPS5(NM_181507.1):c.580C>T (p.L194F) - HPS5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.612-7A>T r.(=) p.(=) - benign g.18327901T>A g.18306354T>A HPS5(NM_181507.1):c.612-7A>T - HPS5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.646_647del r.(?) p.(Asp216Trpfs*28) ACMG pathogenic g.18327862_18327863del g.18306315_18306316del - - HPS5_000064 - - - - Germline/De novo (untested) - - - - - Jinu Han
-/. 1 - c.822C>A r.(?) p.(Leu274=) - benign g.18327684G>T g.18306137G>T HPS5(NM_181507.1):c.822C>A (p.L274=) - HPS5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.825-16T>C r.(=) p.(=) - benign g.18327056A>G g.18305509A>G HPS5(NM_181507.1):c.825-16T>C - HPS5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 8 c.879dup r.(?) p.(Lys294GlnfsTer6) - pathogenic g.18326989dup g.18305442dup - - HPS5_000007 - PubMed: Huizing 2004 - - Unknown - - - - - William (Bill) Oetting
+/. 1 8 c.888dup r.(?) p.(His297ThrfsTer3) - pathogenic g.18326977dup g.18305430dup - - HPS5_000008 - PubMed: Korswagen 2008 - - Unknown - - - - - William (Bill) Oetting
-?/. 1 - c.958C>G r.(?) p.(Gln320Glu) - likely benign g.18322402G>C g.18300855G>C HPS5(NM_181507.1):c.958C>G (p.Q320E) - HPS5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.974G>C r.(?) p.(Ser325Thr) - VUS g.18322386C>G g.18300839C>G HPS5(NM_181507.1):c.974G>C (p.S325T) - HPS5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.985+8T>C r.(=) p.(=) - benign g.18322367A>G g.18300820A>G HPS5(NM_181507.1):c.985+8T>C - HPS5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.986-15C>T r.(=) p.(=) - benign g.18320532G>A g.18298985G>A HPS5(NM_181507.1):c.986-15C>T - HPS5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1020G>T r.(?) p.(Leu340Phe) - VUS g.18320483C>A - HPS5(NM_181507.1):c.1020G>T (p.L340F) - HPS5_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1037A>G r.(?) p.(Asn346Ser) - likely benign g.18320466T>C g.18298919T>C HPS5(NM_181507.1):c.1037A>G (p.N346S) - HPS5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1075C>T r.(?) p.(Arg359Cys) - VUS g.18320428G>A g.18298881G>A HPS5(NM_181507.1):c.1075C>T (p.R359C) - HPS5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1134T>A r.(?) p.(Cys378*) ACMG pathogenic g.18320369A>T - - - HPS5_000063 - - - - Germline/De novo (untested) - - - - - Jinu Han
-/. 1 - c.1324-19G>T r.(=) p.(=) - benign g.18318550C>A g.18297003C>A HPS5(NM_181507.1):c.1324-19G>T - HPS5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1324-14C>T r.(=) p.(=) - likely benign g.18318545G>A g.18296998G>A HPS5(NM_181507.1):c.1324-14C>T - HPS5_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1333A>G r.(?) p.(Ser445Gly) - VUS g.18318522T>C g.18296975T>C HPS5(NM_181507.1):c.1333A>G (p.S445G) - HPS5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1388C>T r.(?) p.(Ser463Leu) - VUS g.18318467G>A g.18296920G>A HPS5(NM_181507.1):c.1388C>T (p.S463L) - HPS5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1423del r.(?) p.(Leu475Serfs*37) - likely pathogenic g.18318434del - - - HPS5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1476G>A r.(?) p.(Leu492=) - benign g.18318379C>T g.18296832C>T HPS5(NM_181507.1):c.1476G>A (p.L492=) - HPS5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1501G>A r.(?) p.(Gly501Arg) - benign, likely benign g.18318354C>T g.18296807C>T HPS5(NM_181507.1):c.1501G>A (p.G501R) - HPS5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.1507G>T r.(?) p.(Glu503Ter) ACMG pathogenic g.18318348C>A g.18296801C>A HPS5 c.1507G>T p.(Glu503Ter) hom - chr11_007046 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
-?/. 1 - c.1609G>T r.(?) p.(Val537Leu) - likely benign g.18317571C>A g.18296024C>A HPS5(NM_181507.1):c.1609G>T (p.V537L) - HPS5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1775A>G r.(?) p.(Glu592Gly) - VUS g.18316576T>C g.18295029T>C HPS5(NM_181507.1):c.1775A>G (p.E592G) - HPS5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1805G>A r.(?) p.(Ser602Asn) - likely benign g.18314503C>T - HPS5(NM_181507.1):c.1805G>A (p.S602N) - HPS5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 16 c.1871T>G r.(?) p.(Leu624Arg - pathogenic g.18313558A>C g.18292011A>C - - HPS5_000001 - PubMed: Huizing 2004 - - Unknown - - - - - William (Bill) Oetting
+/. 2 - c.1960A>T r.(?) p.(Lys654Ter) - pathogenic g.18313469T>A g.18291922T>A HPS5(NM_181507.1):c.1960A>T (p.K654*) - HPS5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 2 16 c.2026_2029del r.(?) p.(fs*) - pathogenic g.18313403_18313406del g.18291856_18291859del 2026_2029delGTTA - HPS5_000002 - PubMed: Zhang 2003, OMIM:var0001 - - Unknown - - - - - William (Bill) Oetting
-/. 1 - c.2104G>A r.(?) p.(Val702Ile) - benign g.18313325C>T g.18291778C>T HPS5(NM_181507.1):c.2104G>A (p.V702I) - HPS5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2119T>C r.(?) p.(Cys707Arg) - VUS g.18313310A>G g.18291763A>G HPS5(NM_181507.1):c.2119T>C (p.C707R) - HPS5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2135_2137del r.(?) p.(Ser712_Pro713delinsThr) - VUS g.18313292_18313294del - HPS5(NM_181507.1):c.2135_2137delGTC (p.S712_P713delinsT) - HPS5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2144A>G r.(?) p.(Glu715Gly) - VUS g.18313285T>C g.18291738T>C HPS5(NM_181507.1):c.2144A>G (p.E715G) - HPS5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2247A>G r.(?) p.(Val749=) - benign g.18313182T>C g.18291635T>C HPS5(NM_181507.1):c.2247A>G (p.V749=) - HPS5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2264A>G r.(?) p.(Lys755Arg) - VUS g.18313165T>C - HPS5(NM_181507.1):c.2264A>G (p.K755R) - HPS5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2385G>A r.(?) p.(Lys795=) - likely benign g.18313044C>T g.18291497C>T HPS5(NM_181507.1):c.2385G>A (p.K795=) - HPS5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2402G>A r.(?) p.(Ser801Asn) - likely benign g.18313027C>T g.18291480C>T HPS5(NM_181507.1):c.2402G>A (p.S801N) - HPS5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.2441-8T>C r.(=) p.(=) - benign g.18309568A>G g.18288021A>G HPS5(NM_181507.1):c.2441-8T>C - HPS5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.2521G>T r.(?) p.(Val841Phe) - VUS g.18309480C>A g.18287933C>A HPS5(NM_181507.1):c.2521G>T (p.V841F) - HPS5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2537C>T r.(?) p.(Pro846Leu) - likely benign g.18309464G>A g.18287917G>A - - HPS5_000052 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144875223 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. 1 - c.2562-14G>C r.(=) p.(=) - benign g.18309251C>G g.18287704C>G HPS5(NM_181507.1):c.2562-14G>C - HPS5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 18 c.2593C>T r.(?) p.(Arg865*) - pathogenic g.18309206G>A g.18287659G>A - - HPS5_000003 - PubMed: Huizing 2004 - - Unknown - - - - - William (Bill) Oetting
-/. 1 - c.2595A>G r.(?) p.(Arg865=) - benign g.18309204T>C g.18287657T>C HPS5(NM_181507.1):c.2595A>G (p.R865=) - HPS5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 18 c.2624del r.(?) p.(Leu875CysfsTer20) - pathogenic g.18309178del g.18287631del - - HPS5_000004 - PubMed: Huizing 2004 - - Unknown - - - - - William (Bill) Oetting
-?/. 1 - c.2721A>G r.(?) p.(Ser907=) - likely benign g.18308254T>C - HPS5(NM_181507.1):c.2721A>G (p.S907=) - HPS5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2880C>T r.(?) p.(Ile960=) - likely benign g.18306964G>A - HPS5(NM_181507.1):c.2880C>T (p.I960=) - HPS5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 20 c.2928_2929dup r.(?) p.(fs*) - pathogenic g.18306915_18306916dup g.18285368_18285369dup 2928_2929dupGA - HPS5_000005 - PubMed: Huizing 2004 - - Unknown - - - - - William (Bill) Oetting
-?/. 1 - c.2952-4A>G r.spl? p.? - likely benign g.18305452T>C g.18283905T>C HPS5(NM_181507.1):c.2952-4A>G - HPS5_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.3041T>A r.(?) p.(Leu1014Gln) - benign g.18305359A>T g.18283812A>T HPS5(NM_181507.1):c.3041T>A (p.L1014Q) - HPS5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.3045G>A r.(?) p.(Met1015Ile) - benign, likely benign g.18305355C>T g.18283808C>T HPS5(NM_181507.1):c.3045G>A (p.M1015I) - HPS5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.3046G>A r.(?) p.(Glu1016Lys) - likely benign g.18305354C>T g.18283807C>T HPS5(NM_181507.1):c.3046G>A (p.E1016K) - HPS5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3078G>A r.(?) p.(Val1026=) - benign g.18303748C>T g.18282201C>T HPS5(NM_181507.1):c.3078G>A (p.V1026=) - HPS5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3217A>G r.(?) p.(Met1073Val) - benign g.18303609T>C g.18282062T>C HPS5(NM_181507.1):c.3217A>G (p.M1073V) - HPS5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.3229C>T r.(?) p.(Arg1077Trp) - VUS g.18303597G>A g.18282050G>A HPS5(NM_181507.1):c.3229C>T (p.R1077W) - HPS5_000010 9 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs75482179 CLASSIFICATION record, Germline - 9/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+/., -/., -?/. 5 22 c.3293C>T r.(?) p.(Thr1098Ile) - benign, likely benign, pathogenic g.18303533G>A g.18281986G>A HPS5(NM_181507.1):c.3293C>T (p.T1098I) - HPS5_000006 1 homozygous; Clinindb (India), 28 heterozygous; Clinindb (India), 1 more item PubMed: Huizing 2004, PubMed: Narang 2020, Journal: Narang 2020 - rs61884288 CLASSIFICATION record, Germline, Unknown - 1/2795 individuals, 28/2795 individuals - - - William (Bill) Oetting, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
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