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NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002452336.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)]

NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3628_3629delinsTA (p.Val1210Ter)
HGVS:
  • NC_000002.12:g.47805689_47805690delinsTA
  • NG_007111.1:g.27543_27544delinsTA
  • NG_008397.1:g.104986_104987delinsTA
  • NM_000179.3:c.3628_3629delinsTAMANE SELECT
  • NM_001281492.2:c.3238_3239delinsTA
  • NM_001281493.2:c.2722_2723delinsTA
  • NM_001281494.2:c.2722_2723delinsTA
  • NM_001406795.1:c.3724_3725delGTinsTA
  • NM_001406796.1:c.3628_3629delGTinsTA
  • NM_001406797.1:c.3331_3332delGTinsTA
  • NM_001406798.1:c.3454_3455delGTinsTA
  • NM_001406799.1:c.3103_3104delGTinsTA
  • NM_001406800.1:c.3628_3629delGTinsTA
  • NM_001406801.1:c.3331_3332delGTinsTA
  • NM_001406802.1:c.3724_3725delGTinsTA
  • NM_001406803.1:c.2764_2765delGTinsTA
  • NM_001406804.1:c.3550_3551delGTinsTA
  • NM_001406805.1:c.3331_3332delGTinsTA
  • NM_001406806.1:c.3103_3104delGTinsTA
  • NM_001406807.1:c.3103_3104delGTinsTA
  • NM_001406808.1:c.3628_3629delGTinsTA
  • NM_001406809.1:c.3628_3629delGTinsTA
  • NM_001406811.1:c.2722_2723delGTinsTA
  • NM_001406812.1:c.2722_2723delGTinsTA
  • NM_001406813.1:c.3634_3635delGTinsTA
  • NM_001406814.1:c.2722_2723delGTinsTA
  • NM_001406815.1:c.2722_2723delGTinsTA
  • NM_001406816.1:c.2722_2723delGTinsTA
  • NM_001406817.1:c.2062_2063delGTinsTA
  • NM_001406818.1:c.3331_3332delGTinsTA
  • NM_001406819.1:c.3331_3332delGTinsTA
  • NM_001406820.1:c.3331_3332delGTinsTA
  • NM_001406821.1:c.3331_3332delGTinsTA
  • NM_001406822.1:c.3331_3332delGTinsTA
  • NM_001406823.1:c.2722_2723delGTinsTA
  • NM_001406824.1:c.3331_3332delGTinsTA
  • NM_001406825.1:c.3331_3332delGTinsTA
  • NM_001406826.1:c.3460_3461delGTinsTA
  • NM_001406827.1:c.3331_3332delGTinsTA
  • NM_001406828.1:c.3331_3332delGTinsTA
  • NM_001406829.1:c.2722_2723delGTinsTA
  • NM_001406830.1:c.3331_3332delGTinsTA
  • NM_001406831.1:c.409_410delGTinsTA
  • NM_001406832.1:c.475_476delGTinsTA
  • NM_001407362.1:c.1573_1574delGTinsTA
  • NP_000170.1:p.Val1210Ter
  • NP_000170.1:p.Val1210Ter
  • NP_001268421.1:p.Val1080Ter
  • NP_001268422.1:p.Val908Ter
  • NP_001268423.1:p.Val908Ter
  • NP_001393724.1:p.Val1242Ter
  • NP_001393725.1:p.Val1210Ter
  • NP_001393726.1:p.Val1111Ter
  • NP_001393727.1:p.Val1152Ter
  • NP_001393728.1:p.Val1035Ter
  • NP_001393729.1:p.Val1210Ter
  • NP_001393730.1:p.Val1111Ter
  • NP_001393731.1:p.Val1242Ter
  • NP_001393732.1:p.Val922Ter
  • NP_001393733.1:p.Val1184Ter
  • NP_001393734.1:p.Val1111Ter
  • NP_001393735.1:p.Val1035Ter
  • NP_001393736.1:p.Val1035Ter
  • NP_001393737.1:p.Val1210Ter
  • NP_001393738.1:p.Val1210Ter
  • NP_001393740.1:p.Val908Ter
  • NP_001393741.1:p.Val908Ter
  • NP_001393742.1:p.Val1212Ter
  • NP_001393743.1:p.Val908Ter
  • NP_001393744.1:p.Val908Ter
  • NP_001393745.1:p.Val908Ter
  • NP_001393746.1:p.Val688Ter
  • NP_001393747.1:p.Val1111Ter
  • NP_001393748.1:p.Val1111Ter
  • NP_001393749.1:p.Val1111Ter
  • NP_001393750.1:p.Val1111Ter
  • NP_001393751.1:p.Val1111Ter
  • NP_001393752.1:p.Val908Ter
  • NP_001393753.1:p.Val1111Ter
  • NP_001393754.1:p.Val1111Ter
  • NP_001393755.1:p.Val1154Ter
  • NP_001393756.1:p.Val1111Ter
  • NP_001393757.1:p.Val1111Ter
  • NP_001393758.1:p.Val908Ter
  • NP_001393759.1:p.Val1111Ter
  • NP_001393760.1:p.Val137Ter
  • NP_001393761.1:p.Val159Ter
  • NP_001394291.1:p.Val525Ter
  • LRG_219t1:c.3628_3629delGTinsTA
  • LRG_219:g.27543_27544delinsTA
  • LRG_219p1:p.Val1210Ter
  • NC_000002.11:g.48032828_48032829delinsTA
  • NM_000179.2:c.3628_3629delGTinsTA
  • NR_176256.1:n.2558_2559delGTinsTA
  • NR_176257.1:n.3889_3890delGTinsTA
  • NR_176258.1:n.3818_3819delGTinsTA
  • NR_176259.1:n.3717_3718delGTinsTA
  • NR_176260.1:n.1662_1663delGTinsTA
  • NR_176261.1:n.3599_3600delGTinsTA
Protein change:
V1035*
Molecular consequence:
  • NM_000179.3:c.3628_3629delinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.3238_3239delinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.2722_2723delinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.2722_2723delinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406795.1:c.3724_3725delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406796.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406797.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406798.1:c.3454_3455delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406799.1:c.3103_3104delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406800.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406801.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406802.1:c.3724_3725delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406803.1:c.2764_2765delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406804.1:c.3550_3551delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406805.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406806.1:c.3103_3104delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406807.1:c.3103_3104delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406808.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406809.1:c.3628_3629delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406811.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406812.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406813.1:c.3634_3635delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406814.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406815.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406816.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406817.1:c.2062_2063delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406818.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406819.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406820.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406821.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406822.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406823.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406824.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406825.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406826.1:c.3460_3461delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406827.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406828.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406829.1:c.2722_2723delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406830.1:c.3331_3332delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406831.1:c.409_410delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406832.1:c.475_476delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407362.1:c.1573_1574delGTinsTA - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002616408Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Jan 15, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002616408.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.3628_3629delGTinsTA pathogenic mutation (also known as p.V1210*), located in coding exon 7 of the MSH6 gene, results from an in-frame deletion of GT and insertion of TA at nucleotide positions 3628 to 3629. This results in the substitution of the valine residue for a stop codon at codon 1210. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024