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NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 2023
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:
RCV000573760.4

Allele description [Variation Report for NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)]

NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)
HGVS:
  • NC_000002.12:g.47806811_47806819del
  • NG_007111.1:g.28665_28673del
  • NG_008397.1:g.103860_103868del
  • NM_000179.3:c.4034_4042delMANE SELECT
  • NM_001281492.2:c.3644_3652del
  • NM_001281493.2:c.3128_3136del
  • NM_001281494.2:c.3128_3136del
  • NP_000170.1:p.Val1345_Ala1347del
  • NP_000170.1:p.Val1345_Ala1347del
  • NP_001268421.1:p.Val1215_Ala1217del
  • NP_001268422.1:p.Val1043_Ala1045del
  • NP_001268423.1:p.Val1043_Ala1045del
  • LRG_219t1:c.4034_4042del
  • LRG_219:g.28665_28673del
  • LRG_219p1:p.Val1345_Ala1347del
  • NC_000002.11:g.48033947_48033955del
  • NC_000002.11:g.48033950_48033958del
  • NM_000179.2:c.4034_4042del
  • NM_000179.2:c.4034_4042delTAGATGCTG
Links:
dbSNP: rs864622703
NCBI 1000 Genomes Browser:
rs864622703
Molecular consequence:
  • NM_000179.3:c.4034_4042del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281492.2:c.3644_3652del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281493.2:c.3128_3136del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281494.2:c.3128_3136del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000670086Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000670086.6

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

Description

The c.4034_4042delTAGATGCTG variant (also known as p.V1345_A1347del) is located in coding exon 10 of the MSH6 gene. This variant results from an in-frame TAGATGCTG deletion at nucleotide positions 4034 to 4042. This results in the deletion of three amino acids between codons 1345 and 1347. These amino acid positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024