NM_032843.5(FIBCD1):c.202G>A (p.Val68Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 16, 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:: RCV004386482.1

Allele description [Variation Report for NM_032843.5(FIBCD1):c.202G>A (p.Val68Ile)]

NM_032843.5(FIBCD1):c.202G>A (p.Val68Ile)

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.202G>A (p.Val68Ile)

HGVS:

NC_000009.12:g.130929917C>T
NG_117836.1:g.286C>T
NM_001145106.2:c.202G>A
NM_032843.5:c.202G>AMANE SELECT
NP_001138578.1:p.Val68Ile
NP_116232.3:p.Val68Ile
NC_000009.11:g.133805304C>T
NM_032843.4:c.202G>A

Protein change:

V68I

Molecular consequence:

NM_001145106.2:c.202G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032843.5:c.202G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Mus musculus ER membrane protein complex subunit 4 (Emc4), transcript variant 2,...
Mus musculus ER membrane protein complex subunit 4 (Emc4), transcript variant 2, mRNA
gi|2463694898|ref|NM_001418608.1|

Nucleotide
Caenorhabditis elegans Acid phosphatase-like protein 2 (ZK792.1), mRNA
Caenorhabditis elegans Acid phosphatase-like protein 2 (ZK792.1), mRNA
gi|1972267342|ref|NM_001383203.2|

Nucleotide
Dalbergia velutina voucher E941 internal transcribed spacer 1, partial sequence;...
Dalbergia velutina voucher E941 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|822548208|gb|KM521418.1|

Nucleotide
MAG: hypothetical protein COS24_02375 [Candidatus Nealsonbacteria bacterium CG02...
MAG: hypothetical protein COS24_02375 [Candidatus Nealsonbacteria bacterium CG02_land_8_20_14_3_00_34_20]
gi|1277947358|gb|PIV45431.1||gnl|WG Y|COS24_02375

Protein
Streptomyces zaomyceticus strain Y53 16S ribosomal RNA gene, partial sequence
Streptomyces zaomyceticus strain Y53 16S ribosomal RNA gene, partial sequence
gi|367057816|gb|JN862840.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004871435	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004871435

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 16, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004871435.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.202G>A (p.V68I) 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 202, causing the valine (V) at amino acid position 68 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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