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NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 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:
RCV002915672.2

Allele description [Variation Report for NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)]

NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)

Genes:
LOC129998342:ATAC-STARR-seq lymphoblastoid active region 25925 [Gene]
DBNL:drebrin like [Gene - OMIM - HGNC]
PGAM2:phosphoglycerate mutase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p13
Genomic location:
Preferred name:
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)
HGVS:
  • NC_000007.14:g.44065162G>A
  • NG_013016.1:g.5426C>T
  • NG_177788.1:g.109G>A
  • NM_000290.4:c.368C>TMANE SELECT
  • NM_001014436.3:c.*4246G>AMANE SELECT
  • NM_001122956.2:c.*4246G>A
  • NM_001284313.2:c.*4246G>A
  • NM_001284315.2:c.*4246G>A
  • NM_001362723.2:c.*4246G>A
  • NM_014063.7:c.*4246G>A
  • NP_000281.2:p.Pro123Leu
  • NC_000007.13:g.44104761G>A
  • NM_000290.3:c.368C>T
Protein change:
P123L
Molecular consequence:
  • NM_001014436.3:c.*4246G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001122956.2:c.*4246G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001284313.2:c.*4246G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001284315.2:c.*4246G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001362723.2:c.*4246G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014063.7:c.*4246G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000290.4:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003650140Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 27, 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, SCV003650140.2

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

Description

The c.368C>T (p.P123L) alteration is located in exon 1 (coding exon 1) of the PGAM2 gene. This alteration results from a C to T substitution at nucleotide position 368, causing the proline (P) at amino acid position 123 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: Sep 1, 2024