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NM_014781.5(RB1CC1):c.808G>A (p.Ala270Thr) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 3, 2024
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:
RCV004440971.1

Allele description [Variation Report for NM_014781.5(RB1CC1):c.808G>A (p.Ala270Thr)]

NM_014781.5(RB1CC1):c.808G>A (p.Ala270Thr)

Gene:
RB1CC1:RB1 inducible coiled-coil 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q11.23
Genomic location:
Preferred name:
NM_014781.5(RB1CC1):c.808G>A (p.Ala270Thr)
HGVS:
  • NC_000008.11:g.52674039C>T
  • NG_015833.2:g.45428G>A
  • NM_001083617.2:c.808G>A
  • NM_014781.5:c.808G>AMANE SELECT
  • NP_001077086.1:p.Ala270Thr
  • NP_055596.3:p.Ala270Thr
  • NC_000008.10:g.53586599C>T
  • NM_014781.4:c.808G>A
Protein change:
A270T
Molecular consequence:
  • NM_001083617.2:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014781.5:c.808G>A - 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
SCV004938065Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 3, 2024) 		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, SCV004938065.1

#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: May 7, 2024