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NM_032843.5(FIBCD1):c.145G>A (p.Gly49Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 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:
RCV004386481.1

Allele description [Variation Report for NM_032843.5(FIBCD1):c.145G>A (p.Gly49Ser)]

NM_032843.5(FIBCD1):c.145G>A (p.Gly49Ser)

Gene:
FIBCD1:fibrinogen C domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.12
Genomic location:
Preferred name:
NM_032843.5(FIBCD1):c.145G>A (p.Gly49Ser)
HGVS:
  • NC_000009.12:g.130929974C>T
  • NG_117836.1:g.343C>T
  • NM_001145106.2:c.145G>A
  • NM_032843.5:c.145G>AMANE SELECT
  • NP_001138578.1:p.Gly49Ser
  • NP_116232.3:p.Gly49Ser
  • NC_000009.11:g.133805361C>T
  • NM_032843.4:c.145G>A
Protein change:
G49S
Molecular consequence:
  • NM_001145106.2:c.145G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032843.5:c.145G>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
SCV004871434Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 31, 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, SCV004871434.1

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

Description

The c.145G>A (p.G49S) alteration is located in exon 2 (coding exon 2) of the FIBCD1 gene. This alteration results from a G to A substitution at nucleotide position 145, causing the glycine (G) at amino acid position 49 to be replaced by a serine (S). 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