NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr) AND Cerebrooculofacioskeletal syndrome 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 24, 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:: RCV001788960.1

Allele description [Variation Report for NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr)]

NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr)

Genes:

BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

Preferred name:

NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr)

HGVS:

NC_000013.11:g.102862488G>A
NG_007146.1:g.21665G>A
NM_000123.4:c.1339G>AMANE SELECT
NM_001204425.2:c.2701G>A
NP_000114.2:p.Ala447Thr
NP_000114.3:p.Ala447Thr
NP_001191354.2:p.Ala901Thr
LRG_464t1:c.1339G>A
LRG_464:g.21665G>A
LRG_464p1:p.Ala447Thr
NC_000013.10:g.103514838G>A
NM_000123.3:c.1339G>A

Protein change:

A447T

Links:

dbSNP: rs2140527689

NCBI 1000 Genomes Browser:

rs2140527689

Molecular consequence:

NM_000123.4:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204425.2:c.2701G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cerebrooculofacioskeletal syndrome 3 (COFS3)
Identifiers:: MONDO: MONDO:0014696; MedGen: C1851443; OMIM: 616570

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002030189	Baylor Genetics - CSER-TexasKidsCanSeq	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 24, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002030189

Baylor Genetics - CSER-TexasKidsCanSeq

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 24, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV002030189.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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