16-56633760-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_176870.3(MT1M):c.104C>T(p.Ser35Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00148 in 1,614,190 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176870.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MT1M | NM_176870.3 | c.104C>T | p.Ser35Phe | missense_variant | 3/3 | ENST00000379818.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT1M | ENST00000379818.4 | c.104C>T | p.Ser35Phe | missense_variant | 3/3 | 1 | NM_176870.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000900 AC: 137AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000632 AC: 159AN: 251472Hom.: 0 AF XY: 0.000655 AC XY: 89AN XY: 135910
GnomAD4 exome AF: 0.00154 AC: 2251AN: 1461874Hom.: 3 Cov.: 34 AF XY: 0.00146 AC XY: 1065AN XY: 727236
GnomAD4 genome ? AF: 0.000899 AC: 137AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.000819 AC XY: 61AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2023 | The c.104C>T (p.S35F) alteration is located in exon 3 (coding exon 3) of the MT1M gene. This alteration results from a C to T substitution at nucleotide position 104, causing the serine (S) at amino acid position 35 to be replaced by a phenylalanine (F). 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