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NM_001109754.4(PTPRB):c.4646A>G (p.Asn1549Ser) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 3, 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:
RCV004209217.1

Allele description [Variation Report for NM_001109754.4(PTPRB):c.4646A>G (p.Asn1549Ser)]

NM_001109754.4(PTPRB):c.4646A>G (p.Asn1549Ser)

Gene:
PTPRB:protein tyrosine phosphatase receptor type B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q15
Genomic location:
Preferred name:
NM_001109754.4(PTPRB):c.4646A>G (p.Asn1549Ser)
HGVS:
  • NC_000012.12:g.70559411T>C
  • NG_029940.2:g.83030A>G
  • NM_001109754.4:c.4646A>GMANE SELECT
  • NM_001206971.3:c.3722A>G
  • NM_001206972.3:c.3722A>G
  • NM_001330204.2:c.4382A>G
  • NM_002837.6:c.3992A>G
  • NP_001103224.1:p.Asn1549Ser
  • NP_001193900.1:p.Asn1241Ser
  • NP_001193901.1:p.Asn1241Ser
  • NP_001317133.1:p.Asn1461Ser
  • NP_002828.3:p.Asn1331Ser
  • NC_000012.11:g.70953191T>C
  • NM_001109754.2:c.4646A>G
Protein change:
N1241S
Molecular consequence:
  • NM_001109754.4:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001206971.3:c.3722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001206972.3:c.3722A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330204.2:c.4382A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002837.6:c.3992A>G - 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
SCV003715929Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 3, 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, SCV003715929.2

#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 10, 2024