7-112462016-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001550.4(IFRD1):āc.634C>Gā(p.Leu212Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00185 in 1,612,418 control chromosomes in the GnomAD database, including 66 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001550.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFRD1 | NM_001550.4 | c.634C>G | p.Leu212Val | missense_variant | 7/12 | ENST00000403825.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFRD1 | ENST00000403825.8 | c.634C>G | p.Leu212Val | missense_variant | 7/12 | 1 | NM_001550.4 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00258 AC: 392AN: 152034Hom.: 8 Cov.: 32
GnomAD3 exomes AF: 0.00720 AC: 1805AN: 250656Hom.: 49 AF XY: 0.00551 AC XY: 746AN XY: 135482
GnomAD4 exome AF: 0.00177 AC: 2591AN: 1460266Hom.: 57 Cov.: 32 AF XY: 0.00153 AC XY: 1111AN XY: 726538
GnomAD4 genome AF: 0.00262 AC: 399AN: 152152Hom.: 9 Cov.: 32 AF XY: 0.00285 AC XY: 212AN XY: 74384
ClinVar
Submissions by phenotype
not specified Benign:3
Benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Benign, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Feb 13, 2015 | - - |
Benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 31, 2019 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at