NM_014334.4:c.809A>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014334.4(FRRS1L):āc.809A>Cā(p.Gln270Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,613,404 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_014334.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRRS1L | ENST00000561981.5 | c.809A>C | p.Gln270Pro | missense_variant | Exon 5 of 5 | 1 | NM_014334.4 | ENSP00000477141.2 | ||
FRRS1L | ENST00000644747.1 | n.*427A>C | non_coding_transcript_exon_variant | Exon 4 of 4 | ENSP00000493964.1 | |||||
FRRS1L | ENST00000644747.1 | n.*427A>C | 3_prime_UTR_variant | Exon 4 of 4 | ENSP00000493964.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251308Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135832
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461324Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726978
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74278
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.962A>C (p.Q321P) alteration is located in exon 5 (coding exon 5) of the FRRS1L gene. This alteration results from a A to C substitution at nucleotide position 962, causing the glutamine (Q) at amino acid position 321 to be replaced by a proline (P). 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