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NM_018934.4(PCDHB14):c.992G>A (p.Cys331Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 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:
RCV004653183.1

Allele description [Variation Report for NM_018934.4(PCDHB14):c.992G>A (p.Cys331Tyr)]

NM_018934.4(PCDHB14):c.992G>A (p.Cys331Tyr)

Genes:
PCDHB14:protocadherin beta 14 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_018934.4(PCDHB14):c.992G>A (p.Cys331Tyr)
HGVS:
  • NC_000005.10:g.141224497G>A
  • NG_000017.2:g.192622G>A
  • NM_018934.4:c.992G>AMANE SELECT
  • NP_061757.1:p.Cys331Tyr
  • NC_000005.9:g.140604069G>A
  • NM_018934.2:c.992G>A
Protein change:
C331Y
Molecular consequence:
  • NM_018934.4:c.992G>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
SCV005150410Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 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, SCV005150410.1

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

Description

The c.992G>A (p.C331Y) alteration is located in exon 1 (coding exon 1) of the PCDHB14 gene. This alteration results from a G to A substitution at nucleotide position 992, causing the cysteine (C) at amino acid position 331 to be replaced by a tyrosine (Y). 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