chr14-106422120-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000390619.2(IGHV4-39):āc.49C>Gā(p.Leu17Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00452 in 823,474 control chromosomes in the GnomAD database, including 495 homozygotes. In-silico tool predicts a benign outcome for this variant. 6/6 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
ENST00000390619.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC124903400 | XR_007064371.1 | n.178+20418G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IGHV4-39 | ENST00000390619.2 | c.49C>G | p.Leu17Val | missense_variant | 1/2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00386 AC: 557AN: 144486Hom.: 73 Cov.: 27
GnomAD3 exomes AF: 0.00340 AC: 832AN: 244858Hom.: 11 AF XY: 0.00338 AC XY: 450AN XY: 133022
GnomAD4 exome AF: 0.00466 AC: 3165AN: 678878Hom.: 421 Cov.: 8 AF XY: 0.00459 AC XY: 1677AN XY: 365688
GnomAD4 genome AF: 0.00385 AC: 557AN: 144596Hom.: 74 Cov.: 27 AF XY: 0.00352 AC XY: 247AN XY: 70256
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2022 | LINC00221: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at