rs11984297
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBS1BS2
The NM_000522.5(HOXA13):c.*1324A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0274 in 178,000 control chromosomes in the GnomAD database, including 91 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 0.028 ( 81 hom., cov: 33)
Exomes 𝑓: 0.023 ( 10 hom. )
Consequence
HOXA13
NM_000522.5 3_prime_UTR
NM_000522.5 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.81
Genes affected
HOXA13 (HGNC:5102): (homeobox A13) In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.32).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0281 (4288/152348) while in subpopulation NFE AF= 0.0367 (2498/68040). AF 95% confidence interval is 0.0355. There are 81 homozygotes in gnomad4. There are 2072 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High AC in GnomAd at 4290 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HOXA13 | NM_000522.5 | c.*1324A>C | 3_prime_UTR_variant | 2/2 | ENST00000649031.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HOXA13 | ENST00000649031.1 | c.*1324A>C | 3_prime_UTR_variant | 2/2 | NM_000522.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0282 AC: 4290AN: 152230Hom.: 81 Cov.: 33
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GnomAD4 exome AF: 0.0230 AC: 590AN: 25652Hom.: 10 Cov.: 0 AF XY: 0.0218 AC XY: 257AN XY: 11806
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GnomAD4 genome ? AF: 0.0281 AC: 4288AN: 152348Hom.: 81 Cov.: 33 AF XY: 0.0278 AC XY: 2072AN XY: 74500
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at