2-36851080-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003162.4(STRN):c.2006G>C(p.Arg669Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,256 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003162.4 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 |
---|---|---|---|---|---|---|---|---|
STRN | NM_003162.4 | c.2006G>C | p.Arg669Thr | missense_variant | Exon 16 of 18 | ENST00000263918.9 | NP_003153.2 | |
STRN | XM_011533073.3 | c.2093G>C | p.Arg698Thr | missense_variant | Exon 17 of 19 | XP_011531375.1 | ||
STRN | XM_005264519.6 | c.1895G>C | p.Arg632Thr | missense_variant | Exon 15 of 17 | XP_005264576.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461256Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726934
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2006G>C (p.R669T) alteration is located in exon 16 (coding exon 16) of the STRN gene. This alteration results from a G to C substitution at nucleotide position 2006, causing the arginine (R) at amino acid position 669 to be replaced by a threonine (T). 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.