12-66169945-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016056.4(TMBIM4):c.7G>A(p.Asp3Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000304 in 1,497,076 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016056.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMBIM4 | NM_016056.4 | c.7G>A | p.Asp3Asn | missense_variant | Exon 1 of 7 | ENST00000358230.8 | NP_057140.2 | |
TMBIM4 | NM_001282606.2 | c.7G>A | p.Asp3Asn | missense_variant | Exon 1 of 8 | NP_001269535.1 | ||
TMBIM4 | NM_001282609.2 | c.7G>A | p.Asp3Asn | missense_variant | Exon 1 of 7 | NP_001269538.1 | ||
TMBIM4 | NM_001282610.2 | c.-49G>A | 5_prime_UTR_variant | Exon 1 of 7 | NP_001269539.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMBIM4 | ENST00000358230.8 | c.7G>A | p.Asp3Asn | missense_variant | Exon 1 of 7 | 1 | NM_016056.4 | ENSP00000350965.3 | ||
ENSG00000228144 | ENST00000539652.1 | n.7G>A | non_coding_transcript_exon_variant | Exon 1 of 8 | 2 | ENSP00000454670.1 |
Frequencies
GnomAD3 genomes AF: 0.00155 AC: 236AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000168 AC: 17AN: 101092Hom.: 0 AF XY: 0.0000902 AC XY: 5AN XY: 55446
GnomAD4 exome AF: 0.000155 AC: 209AN: 1344800Hom.: 0 Cov.: 30 AF XY: 0.000127 AC XY: 84AN XY: 662660
GnomAD4 genome AF: 0.00162 AC: 246AN: 152276Hom.: 2 Cov.: 32 AF XY: 0.00176 AC XY: 131AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.7G>A (p.D3N) alteration is located in exon 1 (coding exon 1) of the TMBIM4 gene. This alteration results from a G to A substitution at nucleotide position 7, causing the aspartic acid (D) at amino acid position 3 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