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NM_019119.5(PCDHB9):c.686G>T (p.Arg229Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 2022
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:
RCV004498179.1

Allele description [Variation Report for NM_019119.5(PCDHB9):c.686G>T (p.Arg229Leu)]

NM_019119.5(PCDHB9):c.686G>T (p.Arg229Leu)

Genes:
PCDHB9:protocadherin beta 9 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_019119.5(PCDHB9):c.686G>T (p.Arg229Leu)
HGVS:
  • NC_000005.10:g.141188004G>T
  • NG_000017.2:g.156130G>T
  • NM_019119.5:c.686G>TMANE SELECT
  • NP_061992.3:p.Arg229Leu
  • NC_000005.9:g.140567578G>T
  • NM_019119.3:c.686G>T
Protein change:
R229L
Molecular consequence:
  • NM_019119.5:c.686G>T - 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
SCV004998989Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 13, 2022) 		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, SCV004998989.1

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

Description

The c.686G>T (p.R229L) alteration is located in exon 1 (coding exon 1) of the PCDHB9 gene. This alteration results from a G to T substitution at nucleotide position 686, causing the arginine (R) at amino acid position 229 to be replaced by a leucine (L). 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: May 7, 2024