rs857716
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_003126.4(SPTA1):c.6549-12G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000243 in 1,608,202 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000066 ( 1 hom., cov: 32)
Exomes 𝑓: 0.000020 ( 0 hom. )
Consequence
SPTA1
NM_003126.4 intron
NM_003126.4 intron
Scores
2
Splicing: ADA: 0.00005472
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.69
Genes affected
SPTA1 (HGNC:11272): (spectrin alpha, erythrocytic 1) This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.7).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SPTA1 | NM_003126.4 | c.6549-12G>T | intron_variant | Intron 46 of 51 | ENST00000643759.2 | NP_003117.2 | ||
SPTA1 | XM_011509916.3 | c.6549-12G>T | intron_variant | Intron 47 of 52 | XP_011508218.1 | |||
SPTA1 | XM_011509917.4 | c.6531-12G>T | intron_variant | Intron 45 of 50 | XP_011508219.1 | |||
SPTA1 | XM_047428883.1 | c.6228-12G>T | intron_variant | Intron 46 of 51 | XP_047284839.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SPTA1 | ENST00000643759.2 | c.6549-12G>T | intron_variant | Intron 46 of 51 | NM_003126.4 | ENSP00000495214.1 | ||||
SPTA1 | ENST00000492934.1 | n.64-12G>T | intron_variant | Intron 1 of 2 | 2 | |||||
SPTA1 | ENST00000498708.1 | n.-32G>T | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151948Hom.: 1 Cov.: 32
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GnomAD3 exomes AF: 0.000117 AC: 29AN: 248152Hom.: 0 AF XY: 0.000104 AC XY: 14AN XY: 134632
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GnomAD4 exome AF: 0.0000199 AC: 29AN: 1456136Hom.: 0 Cov.: 32 AF XY: 0.0000276 AC XY: 20AN XY: 724772
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GnomAD4 genome AF: 0.0000658 AC: 10AN: 152066Hom.: 1 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74306
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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Calibrated prediction
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dbscSNV1_ADA
Benign
dbscSNV1_RF
Benign
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at