chr19-10871886-G-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_199141.2(CARM1):c.184G>T(p.Ala62Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000241 in 1,246,394 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_199141.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARM1 | NM_199141.2 | c.184G>T | p.Ala62Ser | missense_variant | 1/16 | ENST00000327064.9 | NP_954592.1 | |
CARM1 | NM_001370088.1 | c.184G>T | p.Ala62Ser | missense_variant | 1/15 | NP_001357017.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARM1 | ENST00000327064.9 | c.184G>T | p.Ala62Ser | missense_variant | 1/16 | 1 | NM_199141.2 | ENSP00000325690 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000529 AC: 8AN: 151280Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000103 AC: 1AN: 9748Hom.: 0 AF XY: 0.000162 AC XY: 1AN XY: 6154
GnomAD4 exome AF: 0.0000201 AC: 22AN: 1095114Hom.: 0 Cov.: 30 AF XY: 0.0000152 AC XY: 8AN XY: 525962
GnomAD4 genome AF: 0.0000529 AC: 8AN: 151280Hom.: 0 Cov.: 31 AF XY: 0.0000677 AC XY: 5AN XY: 73872
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 10, 2022 | The c.184G>T (p.A62S) alteration is located in exon 1 (coding exon 1) of the CARM1 gene. This alteration results from a G to T substitution at nucleotide position 184, causing the alanine (A) at amino acid position 62 to be replaced by a serine (S). 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