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NM_002632.6(PGF):c.296C>T (p.Thr99Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 24, 2024
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:
RCV004498654.1

Allele description [Variation Report for NM_002632.6(PGF):c.296C>T (p.Thr99Met)]

NM_002632.6(PGF):c.296C>T (p.Thr99Met)

Gene:
PGF:placental growth factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_002632.6(PGF):c.296C>T (p.Thr99Met)
HGVS:
  • NC_000014.9:g.74949376G>A
  • NG_029168.1:g.11389C>T
  • NM_001207012.1:c.296C>T
  • NM_001293643.1:c.293C>T
  • NM_002632.6:c.296C>TMANE SELECT
  • NP_001193941.1:p.Thr99Met
  • NP_001280572.1:p.Thr98Met
  • NP_002623.2:p.Thr99Met
  • NC_000014.8:g.75416079G>A
  • NM_002632.5:c.296C>T
Protein change:
T98M
Molecular consequence:
  • NM_001207012.1:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293643.1:c.293C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002632.6:c.296C>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
SCV005003639Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 24, 2024) 		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, SCV005003639.1

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

Description

The c.296C>T (p.T99M) alteration is located in exon 3 (coding exon 3) of the PGF gene. This alteration results from a C to T substitution at nucleotide position 296, causing the threonine (T) at amino acid position 99 to be replaced by a methionine (M). 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