9-37692736-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014907.3(FRMPD1):c.95C>T(p.Ser32Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000807 in 1,610,374 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014907.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMPD1 | ENST00000377765.8 | c.95C>T | p.Ser32Leu | missense_variant | Exon 2 of 16 | 1 | NM_014907.3 | ENSP00000366995.3 | ||
FRMPD1 | ENST00000539465.5 | c.95C>T | p.Ser32Leu | missense_variant | Exon 2 of 16 | 1 | ENSP00000444411.1 | |||
ENSG00000255872 | ENST00000540557.1 | n.*1135+406G>A | intron_variant | Intron 11 of 11 | 5 | ENSP00000457548.1 | ||||
FRMPD1 | ENST00000359927.3 | c.95C>T | p.Ser32Leu | missense_variant | Exon 2 of 3 | 3 | ENSP00000439868.1 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000160 AC: 40AN: 250418Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135544
GnomAD4 exome AF: 0.0000747 AC: 109AN: 1458238Hom.: 0 Cov.: 29 AF XY: 0.0000675 AC XY: 49AN XY: 725736
GnomAD4 genome AF: 0.000138 AC: 21AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.95C>T (p.S32L) alteration is located in exon 2 (coding exon 1) of the FRMPD1 gene. This alteration results from a C to T substitution at nucleotide position 95, causing the serine (S) at amino acid position 32 to be replaced by a leucine (L). 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