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NM_001082486.2(ACD):c.847G>A (p.Gly283Ser) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 1, 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:
RCV002426201.2

Allele description [Variation Report for NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)]

NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)

Gene:
ACD:ACD shelterin complex subunit and telomerase recruitment factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
HGVS:
  • NC_000016.10:g.67658345C>T
  • NG_042874.1:g.7471G>A
  • NG_054728.1:g.18427C>T
  • NM_001082486.2:c.847G>AMANE SELECT
  • NM_001410884.1:c.760G>A
  • NM_022914.3:c.838G>A
  • NP_001075955.2:p.Gly283Ser
  • NP_001397813.1:p.Gly254Ser
  • NP_075065.3:p.Gly280Ser
  • LRG_1237t1:c.847G>A
  • LRG_1237:g.7471G>A
  • LRG_1237p1:p.Gly283Ser
  • NC_000016.9:g.67692248C>T
  • NM_001082486.1:c.1105G>A
Protein change:
G254S
Molecular consequence:
  • NM_001082486.2:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410884.1:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022914.3:c.838G>A - 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
SCV002744051Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 1, 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, SCV002744051.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024