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NM_025239.4(PDCD1LG2):c.554C>T (p.Pro185Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 27, 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:
RCV004502965.1

Allele description [Variation Report for NM_025239.4(PDCD1LG2):c.554C>T (p.Pro185Leu)]

NM_025239.4(PDCD1LG2):c.554C>T (p.Pro185Leu)

Gene:
PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_025239.4(PDCD1LG2):c.554C>T (p.Pro185Leu)
HGVS:
  • NC_000009.12:g.5549527C>T
  • NM_025239.4:c.554C>TMANE SELECT
  • NP_079515.2:p.Pro185Leu
  • NC_000009.11:g.5549527C>T
  • NM_025239.3:c.554C>T
Protein change:
P185L
Molecular consequence:
  • NM_025239.4:c.554C>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
SCV005003670Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 27, 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, SCV005003670.1

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

Description

The c.554C>T (p.P185L) alteration is located in exon 4 (coding exon 3) of the PDCD1LG2 gene. This alteration results from a C to T substitution at nucleotide position 554, causing the proline (P) at amino acid position 185 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: May 7, 2024