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NM_001130864.2(PWWP2A):c.454A>G (p.Thr152Ala) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 7, 2023
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:
RCV004312538.1

Allele description [Variation Report for NM_001130864.2(PWWP2A):c.454A>G (p.Thr152Ala)]

NM_001130864.2(PWWP2A):c.454A>G (p.Thr152Ala)

Gene:
PWWP2A:PWWP domain containing 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.3
Genomic location:
Preferred name:
NM_001130864.2(PWWP2A):c.454A>G (p.Thr152Ala)
HGVS:
  • NC_000005.10:g.160118935T>C
  • NG_106422.1:g.34T>C
  • NG_106422.2:g.50T>C
  • NG_174615.1:g.590T>C
  • NM_001130864.2:c.454A>GMANE SELECT
  • NM_001267035.3:c.454A>G
  • NM_001349732.2:c.-1505A>G
  • NM_001349733.2:c.-268A>G
  • NM_001349734.2:c.-316A>G
  • NM_001349735.2:c.-268A>G
  • NM_052927.4:c.454A>G
  • NP_001124336.1:p.Thr152Ala
  • NP_001253964.1:p.Thr152Ala
  • NP_443159.1:p.Thr152Ala
  • NC_000005.9:g.159545942T>C
  • NM_001130864.1:c.454A>G
  • NR_146216.2:n.516A>G
  • NR_146217.2:n.516A>G
Protein change:
T152A
Molecular consequence:
  • NM_001349732.2:c.-1505A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349733.2:c.-268A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349734.2:c.-316A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349735.2:c.-268A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001130864.2:c.454A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267035.3:c.454A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052927.4:c.454A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146216.2:n.516A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146217.2:n.516A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003968905Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 7, 2023) 		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, SCV003968905.2

#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: Nov 24, 2024