2-86207275-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016622.4(MRPL35):c.326C>T(p.Ala109Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,718 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016622.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MRPL35 | NM_016622.4 | c.326C>T | p.Ala109Val | missense_variant | Exon 3 of 4 | ENST00000337109.9 | NP_057706.2 | |
MRPL35 | NM_001363782.1 | c.326C>T | p.Ala109Val | missense_variant | Exon 3 of 5 | NP_001350711.1 | ||
MRPL35 | NM_145644.3 | c.326C>T | p.Ala109Val | missense_variant | Exon 3 of 5 | NP_663619.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRPL35 | ENST00000337109.9 | c.326C>T | p.Ala109Val | missense_variant | Exon 3 of 4 | 1 | NM_016622.4 | ENSP00000338389.4 | ||
MRPL35 | ENST00000254644.12 | c.326C>T | p.Ala109Val | missense_variant | Exon 3 of 5 | 1 | ENSP00000254644.7 | |||
MRPL35 | ENST00000409180.1 | c.326C>T | p.Ala109Val | missense_variant | Exon 3 of 5 | 3 | ENSP00000386255.1 | |||
MRPL35 | ENST00000605125.5 | c.233+980C>T | intron_variant | Intron 2 of 2 | 2 | ENSP00000473925.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461718Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727186
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.326C>T (p.A109V) alteration is located in exon 3 (coding exon 3) of the MRPL35 gene. This alteration results from a C to T substitution at nucleotide position 326, causing the alanine (A) at amino acid position 109 to be replaced by a valine (V). 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.