chr8-123975927-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001039112.2(FER1L6):c.713T>C(p.Leu238Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00134 in 1,612,762 control chromosomes in the GnomAD database, including 19 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. L238L) has been classified as Benign.
Frequency
Consequence
NM_001039112.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FER1L6 | NM_001039112.2 | c.713T>C | p.Leu238Pro | missense_variant | 9/41 | ENST00000522917.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FER1L6 | ENST00000522917.5 | c.713T>C | p.Leu238Pro | missense_variant | 9/41 | 1 | NM_001039112.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00714 AC: 1086AN: 152194Hom.: 9 Cov.: 32
GnomAD3 exomes AF: 0.00180 AC: 446AN: 248318Hom.: 2 AF XY: 0.00133 AC XY: 179AN XY: 134652
GnomAD4 exome AF: 0.000731 AC: 1067AN: 1460450Hom.: 9 Cov.: 31 AF XY: 0.000647 AC XY: 470AN XY: 726388
GnomAD4 genome ? AF: 0.00718 AC: 1093AN: 152312Hom.: 10 Cov.: 32 AF XY: 0.00718 AC XY: 535AN XY: 74492
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | May 24, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at