NM_175736.5(FMNL3):c.2263G>A (p.Ala755Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 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:
RCV004301985.1

Allele description [Variation Report for NM_175736.5(FMNL3):c.2263G>A (p.Ala755Thr)]

NM_175736.5(FMNL3):c.2263G>A (p.Ala755Thr)

Gene:
FMNL3:formin like 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_175736.5(FMNL3):c.2263G>A (p.Ala755Thr)
HGVS:
  • NC_000012.12:g.49649511C>T
  • NM_001367835.1:c.2263G>A
  • NM_175736.5:c.2263G>AMANE SELECT
  • NM_198900.3:c.2110G>A
  • NP_001354764.1:p.Ala755Thr
  • NP_783863.4:p.Ala755Thr
  • NP_944489.2:p.Ala704Thr
  • NC_000012.11:g.50043294C>T
  • NM_175736.4:c.2263G>A
Protein change:
A704T
Molecular consequence:
  • NM_001367835.1:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_175736.5:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198900.3:c.2110G>A - 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
SCV003956064Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 28, 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, SCV003956064.2

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

Description

The c.2263G>A (p.A755T) alteration is located in exon 19 (coding exon 19) of the FMNL3 gene. This alteration results from a G to A substitution at nucleotide position 2263, causing the alanine (A) at amino acid position 755 to be replaced by a threonine (T). 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