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NM_006653.5(FRS3):c.127A>G (p.Ser43Gly) 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:
RCV004386881.1

Allele description [Variation Report for NM_006653.5(FRS3):c.127A>G (p.Ser43Gly)]

NM_006653.5(FRS3):c.127A>G (p.Ser43Gly)

Gene:
FRS3:fibroblast growth factor receptor substrate 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_006653.5(FRS3):c.127A>G (p.Ser43Gly)
HGVS:
  • NC_000006.12:g.41775545T>C
  • NM_006653.5:c.127A>GMANE SELECT
  • NP_006644.1:p.Ser43Gly
  • NC_000006.11:g.41743283T>C
  • NM_006653.3:c.127A>G
Protein change:
S43G
Molecular consequence:
  • NM_006653.5:c.127A>G - 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
SCV004870218Ambry 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, SCV004870218.1

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

Description

The c.127A>G (p.S43G) alteration is located in exon 4 (coding exon 2) of the FRS3 gene. This alteration results from a A to G substitution at nucleotide position 127, causing the serine (S) at amino acid position 43 to be replaced by a glycine (G). 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