NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000216513.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)]

NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
HGVS:
  • NC_000002.12:g.47806310_47806313dup
  • NG_007111.1:g.28164_28167dup
  • NG_008397.1:g.104363_104366dup
  • NM_000179.3:c.3753_3756dupMANE SELECT
  • NM_001281492.2:c.3363_3366dup
  • NM_001281493.2:c.2847_2850dup
  • NM_001281494.2:c.2847_2850dup
  • NP_000170.1:p.Val1253fs
  • NP_001268421.1:p.Val1123fs
  • NP_001268422.1:p.Val951fs
  • NP_001268423.1:p.Val951fs
  • LRG_219:g.28164_28167dup
  • NC_000002.11:g.48033448_48033449insATTA
  • NC_000002.11:g.48033448_48033449insATTA
  • NC_000002.11:g.48033449_48033452dup
  • NC_000002.11:g.48033449_48033452dupATTA
  • NM_000179.2:c.3753_3756dupATTA
Protein change:
V1123fs
Links:
dbSNP: rs876661222
NCBI 1000 Genomes Browser:
rs876661222
Molecular consequence:
  • NM_000179.3:c.3753_3756dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3363_3366dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2847_2850dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2847_2850dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000279830GeneDxcriteria provided, single submitter
Pathogenic
(Aug 23, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279830.4

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

Description

This duplication of four nucleotides in MSH6 is denoted c.3753_3756dupATTA at the cDNA level and p.Val1253IlefsX23 (V1253IfsX23) at the protein level. The normal sequence, with the bases that are duplicated in braces, is ATTC[ATTA]GTAG. The duplication causes a frameshift, which changes a Valine to an Isoleucine at codon 1253, and creates a premature stop codon at position 23 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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

Last Updated: Oct 24, 2021

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