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NM_058187.5(EVA1C):c.46G>A (p.Val16Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2022
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:
RCV004186842.1

Allele description [Variation Report for NM_058187.5(EVA1C):c.46G>A (p.Val16Met)]

NM_058187.5(EVA1C):c.46G>A (p.Val16Met)

Gene:
EVA1C:eva-1 homolog C [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_058187.5(EVA1C):c.46G>A (p.Val16Met)
HGVS:
  • NC_000021.9:g.32412899G>A
  • NM_001286556.2:c.46G>A
  • NM_001320744.2:c.46G>A
  • NM_001320745.2:c.-126+706G>A
  • NM_058187.5:c.46G>AMANE SELECT
  • NP_001273485.1:p.Val16Met
  • NP_001307673.1:p.Val16Met
  • NP_478067.2:p.Val16Met
  • NC_000021.8:g.33785207G>A
  • NM_058187.3:c.46G>A
  • NR_104472.2:n.194G>A
  • NR_135467.2:n.194G>A
Protein change:
V16M
Molecular consequence:
  • NM_001320745.2:c.-126+706G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286556.2:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320744.2:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058187.5:c.46G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104472.2:n.194G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135467.2:n.194G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003685571Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 21, 2022) 		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, SCV003685571.2

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

Description

The c.46G>A (p.V16M) alteration is located in exon 1 (coding exon 1) of the EVA1C gene. This alteration results from a G to A substitution at nucleotide position 46, causing the valine (V) at amino acid position 16 to be replaced by a methionine (M). 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: Nov 3, 2024