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NM_001134438.2(PHLDB2):c.2576C>G (p.Ala859Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 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:
RCV004122604.1

Allele description [Variation Report for NM_001134438.2(PHLDB2):c.2576C>G (p.Ala859Gly)]

NM_001134438.2(PHLDB2):c.2576C>G (p.Ala859Gly)

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.2576C>G (p.Ala859Gly)
HGVS:
  • NC_000003.12:g.111949020C>G
  • NM_001134437.2:c.2528C>G
  • NM_001134438.2:c.2576C>GMANE SELECT
  • NM_001134439.2:c.2576C>G
  • NM_145753.2:c.2447C>G
  • NP_001127909.1:p.Ala843Gly
  • NP_001127910.1:p.Ala859Gly
  • NP_001127911.1:p.Ala859Gly
  • NP_665696.1:p.Ala816Gly
  • NC_000003.11:g.111667867C>G
  • NM_001134438.1:c.2576C>G
Protein change:
A816G
Molecular consequence:
  • NM_001134437.2:c.2528C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134438.2:c.2576C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134439.2:c.2576C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145753.2:c.2447C>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
SCV003595421Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 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, SCV003595421.2

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

Description

The c.2576C>G (p.A859G) alteration is located in exon 10 (coding exon 9) of the PHLDB2 gene. This alteration results from a C to G substitution at nucleotide position 2576, causing the alanine (A) at amino acid position 859 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