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NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 7, 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:
RCV002554582.2

Allele description [Variation Report for NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)]

NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)

Gene:
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
HGVS:
  • NC_000004.12:g.5628698T>A
  • NG_015821.1:g.85851A>T
  • NM_001166136.2:c.1507A>T
  • NM_147127.5:c.1747A>TMANE SELECT
  • NP_001159608.1:p.Ser503Cys
  • NP_667338.3:p.Ser583Cys
  • NC_000004.11:g.5630425T>A
  • NC_000004.11:g.5630425T>A
  • NM_147127.4:c.1747A>T
Protein change:
S503C
Links:
dbSNP: rs1222356750
NCBI 1000 Genomes Browser:
rs1222356750
Molecular consequence:
  • NM_001166136.2:c.1507A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147127.5:c.1747A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003587899Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 7, 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, SCV003587899.2

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

Description

The c.1747A>T (p.S583C) alteration is located in exon 12 (coding exon 12) of the EVC2 gene. This alteration results from a A to T substitution at nucleotide position 1747, causing the serine (S) at amino acid position 583 to be replaced by a cysteine (C). 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: Sep 29, 2024