rs374300356
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4BP6_ModerateBS1BS2
The NM_002049.4(GATA1):āc.212A>Cā(p.His71Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000626 in 1,197,474 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 23 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. H71R) has been classified as Benign.
Frequency
Consequence
NM_002049.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GATA1 | NM_002049.4 | c.212A>C | p.His71Pro | missense_variant | 2/6 | ENST00000376670.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GATA1 | ENST00000376670.9 | c.212A>C | p.His71Pro | missense_variant | 2/6 | 1 | NM_002049.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000539 AC: 6AN: 111415Hom.: 0 Cov.: 22 AF XY: 0.0000593 AC XY: 2AN XY: 33717
GnomAD3 exomes AF: 0.0000687 AC: 11AN: 160056Hom.: 0 AF XY: 0.0000989 AC XY: 5AN XY: 50544
GnomAD4 exome AF: 0.0000635 AC: 69AN: 1086007Hom.: 0 Cov.: 31 AF XY: 0.0000594 AC XY: 21AN XY: 353769
GnomAD4 genome AF: 0.0000538 AC: 6AN: 111467Hom.: 0 Cov.: 22 AF XY: 0.0000592 AC XY: 2AN XY: 33779
ClinVar
Submissions by phenotype
Diamond-Blackfan anemia;C1845837:GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at