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NM_000179.3(MSH6):c.3231A>G (p.Pro1077=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 28, 2018
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:
RCV000603353.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3231A>G (p.Pro1077=)]

NM_000179.3(MSH6):c.3231A>G (p.Pro1077=)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3231A>G (p.Pro1077=)
HGVS:
  • NC_000002.12:g.47803478A>G
  • NG_007111.1:g.25332A>G
  • NM_000179.3:c.3231A>GMANE SELECT
  • NM_001281492.2:c.2841A>G
  • NM_001281493.2:c.2325A>G
  • NM_001281494.2:c.2325A>G
  • NP_000170.1:p.Pro1077=
  • NP_000170.1:p.Pro1077=
  • NP_001268421.1:p.Pro947=
  • NP_001268422.1:p.Pro775=
  • NP_001268423.1:p.Pro775=
  • LRG_219t1:c.3231A>G
  • LRG_219:g.25332A>G
  • LRG_219p1:p.Pro1077=
  • NC_000002.11:g.48030617A>G
  • NM_000179.2:c.3231A>G
Links:
dbSNP: rs1553331315
NCBI 1000 Genomes Browser:
rs1553331315
Molecular consequence:
  • NM_000179.3:c.3231A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281492.2:c.2841A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281493.2:c.2325A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281494.2:c.2325A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000728174GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Feb 28, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000728174.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024