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NM_012183.3(FOXD3):c.1055C>T (p.Ala352Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 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:
RCV004392169.1

Allele description [Variation Report for NM_012183.3(FOXD3):c.1055C>T (p.Ala352Val)]

NM_012183.3(FOXD3):c.1055C>T (p.Ala352Val)

Genes:
FOXD3-AS1:FOXD3 antisense RNA 1 [Gene - HGNC]
FOXD3:forkhead box D3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_012183.3(FOXD3):c.1055C>T (p.Ala352Val)
HGVS:
  • NC_000001.11:g.63324113C>T
  • NG_012220.1:g.6055C>T
  • NM_012183.3:c.1055C>TMANE SELECT
  • NP_036315.1:p.Ala352Val
  • NC_000001.10:g.63789784C>T
  • NM_012183.2:c.1055C>T
Protein change:
A352V
Molecular consequence:
  • NM_012183.3:c.1055C>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
SCV004872559Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 6, 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, SCV004872559.1

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

Description

The c.1055C>T (p.A352V) alteration is located in exon 1 (coding exon 1) of the FOXD3 gene. This alteration results from a C to T substitution at nucleotide position 1055, causing the alanine (A) at amino acid position 352 to be replaced by a valine (V). 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