NM_001370658.1:c.201C>T
Variant summary
Our verdict is Likely benign. The variant received -5 ACMG points: 0P and 5B. BP4_ModerateBP6BP7BS2_Supporting
The NM_001370658.1(BTD):c.201C>T(p.Asn67Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00203 in 1,614,200 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001370658.1 synonymous
Scores
Clinical Significance
Conservation
Publications
- biotinidase deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Myriad Women’s Health, ClinGen, Orphanet, Ambry Genetics, G2P, Labcorp Genetics (formerly Invitae)
- Leigh syndromeInheritance: AR Classification: MODERATE Submitted by: ClinGen
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BTD | NM_001370658.1 | c.201C>T | p.Asn67Asn | synonymous_variant | Exon 2 of 4 | ENST00000643237.3 | NP_001357587.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00154 AC: 234AN: 152188Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00162 AC: 407AN: 251392 AF XY: 0.00172 show subpopulations
GnomAD4 exome AF: 0.00208 AC: 3047AN: 1461894Hom.: 11 Cov.: 32 AF XY: 0.00204 AC XY: 1480AN XY: 727248 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00154 AC: 234AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.00153 AC XY: 114AN XY: 74482 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
- -
BTD: BP4, BP7 -
- -
Biotinidase deficiency Benign:3
- -
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at