9-130904153-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032843.5(FIBCD1):c.1297G>A(p.Asp433Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000651 in 1,613,580 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032843.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FIBCD1 | NM_032843.5 | c.1297G>A | p.Asp433Asn | missense_variant | Exon 7 of 7 | ENST00000372338.9 | NP_116232.3 | |
FIBCD1 | NM_001145106.2 | c.1297G>A | p.Asp433Asn | missense_variant | Exon 8 of 8 | NP_001138578.1 | ||
FIBCD1 | XM_047423989.1 | c.1297G>A | p.Asp433Asn | missense_variant | Exon 8 of 8 | XP_047279945.1 | ||
FIBCD1 | XM_047423990.1 | c.823G>A | p.Asp275Asn | missense_variant | Exon 7 of 7 | XP_047279946.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FIBCD1 | ENST00000372338.9 | c.1297G>A | p.Asp433Asn | missense_variant | Exon 7 of 7 | 1 | NM_032843.5 | ENSP00000361413.4 | ||
FIBCD1 | ENST00000448616.5 | c.1297G>A | p.Asp433Asn | missense_variant | Exon 8 of 8 | 5 | ENSP00000414501.1 | |||
FIBCD1 | ENST00000372337.6 | c.823G>A | p.Asp275Asn | missense_variant | Exon 7 of 7 | 5 | ENSP00000361412.1 | |||
FIBCD1 | ENST00000444139.5 | c.806-81G>A | intron_variant | Intron 4 of 4 | 2 | ENSP00000395319.1 |
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000957 AC: 24AN: 250814Hom.: 1 AF XY: 0.0000663 AC XY: 9AN XY: 135744
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461276Hom.: 1 Cov.: 33 AF XY: 0.0000399 AC XY: 29AN XY: 726908
GnomAD4 genome AF: 0.000263 AC: 40AN: 152304Hom.: 0 Cov.: 33 AF XY: 0.000282 AC XY: 21AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1297G>A (p.D433N) alteration is located in exon 7 (coding exon 7) of the FIBCD1 gene. This alteration results from a G to A substitution at nucleotide position 1297, causing the aspartic acid (D) at amino acid position 433 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at