6-41149619-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_178174.4(TREML1):āc.921G>Cā(p.Gln307His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_178174.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TREML1 | NM_178174.4 | c.921G>C | p.Gln307His | missense_variant | 6/6 | ENST00000426005.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TREML1 | ENST00000426005.7 | c.921G>C | p.Gln307His | missense_variant | 6/6 | 1 | NM_178174.4 | P2 | |
TREML1 | ENST00000437044.2 | c.588G>C | p.Gln196His | missense_variant | 5/5 | 1 | |||
TREML1 | ENST00000373127.8 | c.*268G>C | 3_prime_UTR_variant | 5/5 | 1 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459450Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725648
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.921G>C (p.Q307H) alteration is located in exon 6 (coding exon 6) of the TREML1 gene. This alteration results from a G to C substitution at nucleotide position 921, causing the glutamine (Q) at amino acid position 307 to be replaced by a histidine (H). 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
Publications
No publications associated with this variant yet.