chr17-44014530-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032376.4(TMEM101):c.145G>A(p.Asp49Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000226 in 1,416,136 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032376.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM101 | NM_032376.4 | c.145G>A | p.Asp49Asn | missense_variant | Exon 2 of 4 | ENST00000206380.8 | NP_115752.1 | |
TMEM101 | NM_001304813.2 | c.-30G>A | 5_prime_UTR_variant | Exon 3 of 5 | NP_001291742.1 | |||
TMEM101 | NM_001304814.2 | c.-30G>A | 5_prime_UTR_variant | Exon 3 of 5 | NP_001291743.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000107 AC: 2AN: 187170Hom.: 0 AF XY: 0.0000200 AC XY: 2AN XY: 100092
GnomAD4 exome AF: 0.0000226 AC: 32AN: 1416136Hom.: 0 Cov.: 31 AF XY: 0.0000186 AC XY: 13AN XY: 699030
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.145G>A (p.D49N) alteration is located in exon 2 (coding exon 2) of the TMEM101 gene. This alteration results from a G to A substitution at nucleotide position 145, causing the aspartic acid (D) at amino acid position 49 to be replaced by an asparagine (N). 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