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NM_018933.4(PCDHB13):c.2135G>T (p.Arg712Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 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:
RCV004084676.1

Allele description [Variation Report for NM_018933.4(PCDHB13):c.2135G>T (p.Arg712Leu)]

NM_018933.4(PCDHB13):c.2135G>T (p.Arg712Leu)

Genes:
PCDHB13:protocadherin beta 13 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_018933.4(PCDHB13):c.2135G>T (p.Arg712Leu)
HGVS:
  • NC_000005.10:g.141216258G>T
  • NG_000017.2:g.184383G>T
  • NM_018933.4:c.2135G>TMANE SELECT
  • NP_061756.1:p.Arg712Leu
  • NC_000005.9:g.140595830G>T
  • NM_018933.2:c.2135G>T
Protein change:
R712L
Molecular consequence:
  • NM_018933.4:c.2135G>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
SCV003546636Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 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, SCV003546636.2

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

Description

The c.2135G>T (p.R712L) alteration is located in exon 1 (coding exon 1) of the PCDHB13 gene. This alteration results from a G to T substitution at nucleotide position 2135, causing the arginine (R) at amino acid position 712 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: Nov 3, 2024