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NM_001134438.2(PHLDB2):c.1291C>T (p.Arg431Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 2023
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:
RCV004281873.1

Allele description [Variation Report for NM_001134438.2(PHLDB2):c.1291C>T (p.Arg431Trp)]

NM_001134438.2(PHLDB2):c.1291C>T (p.Arg431Trp)

Gene:
PHLDB2:pleckstrin homology like domain family B member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.2
Genomic location:
Preferred name:
NM_001134438.2(PHLDB2):c.1291C>T (p.Arg431Trp)
HGVS:
  • NC_000003.12:g.111885368C>T
  • NM_001134437.2:c.1372C>T
  • NM_001134438.2:c.1291C>TMANE SELECT
  • NM_001134439.2:c.1291C>T
  • NM_145753.2:c.1291C>T
  • NP_001127909.1:p.Arg458Trp
  • NP_001127910.1:p.Arg431Trp
  • NP_001127911.1:p.Arg431Trp
  • NP_665696.1:p.Arg431Trp
  • NC_000003.11:g.111604215C>T
  • NM_001134438.1:c.1291C>T
Protein change:
R431W
Molecular consequence:
  • NM_001134437.2:c.1372C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134438.2:c.1291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134439.2:c.1291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145753.2:c.1291C>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
SCV003941768Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 18, 2023) 		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, SCV003941768.2

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

Description

The c.1291C>T (p.R431W) alteration is located in exon 2 (coding exon 1) of the PHLDB2 gene. This alteration results from a C to T substitution at nucleotide position 1291, causing the arginine (R) at amino acid position 431 to be replaced by a tryptophan (W). 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