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NM_002709.3(PPP1CB):c.123T>A (p.Ser41=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 31, 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:
RCV002382616.2

Allele description [Variation Report for NM_002709.3(PPP1CB):c.123T>A (p.Ser41=)]

NM_002709.3(PPP1CB):c.123T>A (p.Ser41=)

Gene:
PPP1CB:protein phosphatase 1 catalytic subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_002709.3(PPP1CB):c.123T>A (p.Ser41=)
HGVS:
  • NC_000002.12:g.28776921T>A
  • NG_052878.1:g.30174T>A
  • NM_002709.3:c.123T>AMANE SELECT
  • NM_206876.2:c.123T>A
  • NP_002700.1:p.Ser41=
  • NP_996759.1:p.Ser41=
  • NC_000002.11:g.28999787T>A
  • NM_206876.1:c.123T>A
Molecular consequence:
  • NM_002709.3:c.123T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_206876.2:c.123T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002669195Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 31, 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, SCV002669195.2

#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: May 1, 2024