NM_000037.4:c.*1667T>A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS1
The NM_000037.4(ANK1):c.*1667T>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000888 in 152,050 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000037.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANK1 | ENST00000289734 | c.*1667T>A | 3_prime_UTR_variant | Exon 43 of 43 | 1 | NM_000037.4 | ENSP00000289734.8 | |||
ANK1 | ENST00000265709 | c.*1604T>A | 3_prime_UTR_variant | Exon 43 of 43 | 1 | ENSP00000265709.8 | ||||
ANK1 | ENST00000347528 | c.*1604T>A | 3_prime_UTR_variant | Exon 42 of 42 | 1 | ENSP00000339620.4 | ||||
ANK1 | ENST00000522543 | c.*1604T>A | 3_prime_UTR_variant | Exon 4 of 4 | 2 | ENSP00000430368.1 |
Frequencies
GnomAD3 genomes AF: 0.000889 AC: 135AN: 151932Hom.: 1 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 484Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 304
GnomAD4 genome AF: 0.000888 AC: 135AN: 152050Hom.: 1 Cov.: 33 AF XY: 0.00102 AC XY: 76AN XY: 74354
ClinVar
Submissions by phenotype
Hereditary spherocytosis type 1 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at