chr2-176116868-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_002148.4(HOXD10):c.35C>T(p.Thr12Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000173 in 1,613,974 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002148.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HOXD10 | ENST00000249501.5 | c.35C>T | p.Thr12Ile | missense_variant | Exon 1 of 2 | 1 | NM_002148.4 | ENSP00000249501.4 | ||
HOXD10 | ENST00000490088.2 | n.570-2086C>T | intron_variant | Intron 1 of 1 | 2 | |||||
HOXD10 | ENST00000549469.1 | n.617-2086C>T | intron_variant | Intron 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152212Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461762Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727184
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152212Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.35C>T (p.T12I) alteration is located in exon 1 (coding exon 1) of the HOXD10 gene. This alteration results from a C to T substitution at nucleotide position 35, causing the threonine (T) at amino acid position 12 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at