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NM_019119.5(PCDHB9):c.685C>G (p.Arg229Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 4, 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:
RCV004161440.1

Allele description [Variation Report for NM_019119.5(PCDHB9):c.685C>G (p.Arg229Gly)]

NM_019119.5(PCDHB9):c.685C>G (p.Arg229Gly)

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.685C>G (p.Arg229Gly)
HGVS:
  • NC_000005.10:g.141188003C>G
  • NG_000017.2:g.156129C>G
  • NM_019119.5:c.685C>GMANE SELECT
  • NP_061992.3:p.Arg229Gly
  • NC_000005.9:g.140567577C>G
  • NM_019119.3:c.685C>G
Protein change:
R229G
Molecular consequence:
  • NM_019119.5:c.685C>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
SCV003654091Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 4, 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, SCV003654091.2

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

Description

The c.685C>G (p.R229G) alteration is located in exon 1 (coding exon 1) of the PCDHB9 gene. This alteration results from a C to G substitution at nucleotide position 685, causing the arginine (R) at amino acid position 229 to be replaced by a glycine (G). 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: Nov 10, 2024