chr1-165728260-C-CT
Position:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_019026.6(TMCO1):c.469-140_469-139insA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0818 in 436,994 control chromosomes in the GnomAD database, including 73 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.024 ( 71 hom., cov: 31)
Exomes 𝑓: 0.11 ( 2 hom. )
Consequence
TMCO1
NM_019026.6 intron
NM_019026.6 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.355
Genes affected
TMCO1 (HGNC:18188): (transmembrane and coiled-coil domains 1) This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 1-165728260-C-CT is Benign according to our data. Variant chr1-165728260-C-CT is described in ClinVar as [Benign]. Clinvar id is 1277148.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.052 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMCO1 | NM_019026.6 | c.469-140_469-139insA | intron_variant | ENST00000367881.11 | |||
TMCO1 | NM_001256164.1 | c.520-140_520-139insA | intron_variant | ||||
TMCO1 | NM_001256165.1 | c.433-140_433-139insA | intron_variant | ||||
TMCO1 | NR_045818.1 | n.563-140_563-139insA | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMCO1 | ENST00000367881.11 | c.469-140_469-139insA | intron_variant | 1 | NM_019026.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0241 AC: 3479AN: 144110Hom.: 72 Cov.: 31
GnomAD3 genomes
AF:
AC:
3479
AN:
144110
Hom.:
Cov.:
31
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.110 AC: 32242AN: 292834Hom.: 2 AF XY: 0.111 AC XY: 18029AN XY: 162998
GnomAD4 exome
AF:
AC:
32242
AN:
292834
Hom.:
AF XY:
AC XY:
18029
AN XY:
162998
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.0242 AC: 3487AN: 144160Hom.: 71 Cov.: 31 AF XY: 0.0231 AC XY: 1614AN XY: 69938
GnomAD4 genome
AF:
AC:
3487
AN:
144160
Hom.:
Cov.:
31
AF XY:
AC XY:
1614
AN XY:
69938
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 21, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at