19-41877332-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP6
The NM_001783.4(CD79A):c.28G>A(p.Ala10Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000309 in 1,614,190 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A10A) has been classified as Likely benign.
Frequency
Consequence
NM_001783.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD79A | NM_001783.4 | c.28G>A | p.Ala10Thr | missense_variant | 1/5 | ENST00000221972.8 | |
CD79A | NM_021601.4 | c.28G>A | p.Ala10Thr | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD79A | ENST00000221972.8 | c.28G>A | p.Ala10Thr | missense_variant | 1/5 | 1 | NM_001783.4 | P1 | |
CD79A | ENST00000444740.2 | c.28G>A | p.Ala10Thr | missense_variant | 1/5 | 1 | |||
CD79A | ENST00000597454.2 | c.28G>A | p.Ala10Thr | missense_variant | 1/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000177 AC: 27AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000629 AC: 158AN: 251392Hom.: 1 AF XY: 0.000817 AC XY: 111AN XY: 135886
GnomAD4 exome AF: 0.000323 AC: 472AN: 1461876Hom.: 6 Cov.: 31 AF XY: 0.000448 AC XY: 326AN XY: 727242
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152314Hom.: 0 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1Other:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Aug 03, 2015 | - - |
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Agammaglobulinemia 3, autosomal recessive Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at