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NM_018937.5(PCDHB3):c.1250A>G (p.Tyr417Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 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:
RCV004653202.1

Allele description [Variation Report for NM_018937.5(PCDHB3):c.1250A>G (p.Tyr417Cys)]

NM_018937.5(PCDHB3):c.1250A>G (p.Tyr417Cys)

Genes:
PCDHB3:protocadherin beta 3 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_018937.5(PCDHB3):c.1250A>G (p.Tyr417Cys)
HGVS:
  • NC_000005.10:g.141101899A>G
  • NG_000017.2:g.70035A>G
  • NM_018937.5:c.1250A>GMANE SELECT
  • NP_061760.2:p.Tyr417Cys
  • NC_000005.9:g.140481483A>G
  • NM_018937.2:c.1250A>G
Protein change:
Y417C
Molecular consequence:
  • NM_018937.5:c.1250A>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
SCV005150441Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 21, 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, SCV005150441.1

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

Description

The c.1250A>G (p.Y417C) alteration is located in exon 1 (coding exon 1) of the PCDHB3 gene. This alteration results from a A to G substitution at nucleotide position 1250, causing the tyrosine (Y) at amino acid position 417 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024