NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 4, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)]

NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
  • NC_000002.12:g.47806528_47806531dup
  • NG_007111.1:g.28382_28385dup
  • NG_008397.1:g.104146_104149dup
  • NM_000179.3:c.3878_3881dupMANE SELECT
  • NM_001281492.2:c.3488_3491dup
  • NM_001281493.2:c.2972_2975dup
  • NM_001281494.2:c.2972_2975dup
  • NP_000170.1:p.Pro1295fs
  • NP_001268421.1:p.Pro1165fs
  • NP_001268422.1:p.Pro993fs
  • NP_001268423.1:p.Pro993fs
  • LRG_219:g.28382_28385dup
  • NC_000002.11:g.48033667_48033670dup
  • NM_000179.2:c.3878_3881dupCTTG
Protein change:
dbSNP: rs1553333500
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000179.3:c.3878_3881dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3488_3491dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2972_2975dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2972_2975dup - frameshift variant - [Sequence Ontology: SO:0001589]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000565238GeneDxcriteria provided, single submitter
(Jun 4, 2018)
germlineclinical testing

Citation Link,

SCV000889499Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely pathogenic
(Dec 22, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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



A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

Details of each submission

From GeneDx, SCV000565238.3

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


This duplication of 4 nucleotides in MSH6 is denoted c.3878_3881dupCTTG at the cDNA level and p.Pro1295LeufsX3 (P1295LfsX3) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is GGAG[dupCTTG]TCCT. The duplication causes a frameshift, which changes a Proline to a Leucine at codon 1295 and creates a premature stop codon at position 3 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. Based on currently available evidence, we consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000889499.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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