chr9-130904321-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032843.5(FIBCD1):c.1129G>A(p.Asp377Asn) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000735 in 1,605,280 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D377H) has been classified as Uncertain significance.
Frequency
Consequence
NM_032843.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FIBCD1 | NM_032843.5 | c.1129G>A | p.Asp377Asn | missense_variant, splice_region_variant | 7/7 | ENST00000372338.9 | |
FIBCD1 | NM_001145106.2 | c.1129G>A | p.Asp377Asn | missense_variant, splice_region_variant | 8/8 | ||
FIBCD1 | XM_047423989.1 | c.1129G>A | p.Asp377Asn | missense_variant, splice_region_variant | 8/8 | ||
FIBCD1 | XM_047423990.1 | c.655G>A | p.Asp219Asn | missense_variant, splice_region_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FIBCD1 | ENST00000372338.9 | c.1129G>A | p.Asp377Asn | missense_variant, splice_region_variant | 7/7 | 1 | NM_032843.5 | P1 | |
FIBCD1 | ENST00000448616.5 | c.1129G>A | p.Asp377Asn | missense_variant, splice_region_variant | 8/8 | 5 | P1 | ||
FIBCD1 | ENST00000372337.6 | c.655G>A | p.Asp219Asn | missense_variant, splice_region_variant | 7/7 | 5 | |||
FIBCD1 | ENST00000444139.5 | c.808-249G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000329 AC: 8AN: 243460Hom.: 0 AF XY: 0.0000455 AC XY: 6AN XY: 131978
GnomAD4 exome AF: 0.0000736 AC: 107AN: 1453124Hom.: 0 Cov.: 33 AF XY: 0.0000818 AC XY: 59AN XY: 721340
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152156Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 08, 2023 | The c.1129G>A (p.D377N) 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 1129, causing the aspartic acid (D) at amino acid position 377 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