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NM_001085377.2(MCC):c.2791G>C (p.Val931Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 20, 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:
RCV004419063.1

Allele description [Variation Report for NM_001085377.2(MCC):c.2791G>C (p.Val931Leu)]

NM_001085377.2(MCC):c.2791G>C (p.Val931Leu)

Gene:
MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_001085377.2(MCC):c.2791G>C (p.Val931Leu)
HGVS:
  • NC_000005.10:g.113029022C>G
  • NG_012265.1:g.464809G>C
  • NG_012265.2:g.464431G>C
  • NM_001085377.2:c.2791G>CMANE SELECT
  • NM_002387.3:c.2221G>C
  • NP_001078846.2:p.Val931Leu
  • NP_002378.2:p.Val741Leu
  • NC_000005.9:g.112364719C>G
  • NM_001085377.1:c.2791G>C
Protein change:
V741L
Molecular consequence:
  • NM_001085377.2:c.2791G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002387.3:c.2221G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004904763Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 20, 2021) 		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, SCV004904763.1

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

Description

The c.2791G>C (p.V931L) alteration is located in exon 18 (coding exon 18) of the MCC gene. This alteration results from a G to C substitution at nucleotide position 2791, causing the valine (V) at amino acid position 931 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024