rs4741426
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001379081.2(FREM1):āc.5859T>Gā(p.Val1953=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,104 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V1953V) has been classified as Benign.
Frequency
Consequence
NM_001379081.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FREM1 | NM_001379081.2 | c.5859T>G | p.Val1953= | synonymous_variant | 33/37 | ENST00000380880.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FREM1 | ENST00000380880.4 | c.5859T>G | p.Val1953= | synonymous_variant | 33/37 | 5 | NM_001379081.2 | P1 | |
FREM1 | ENST00000380894.5 | c.1467T>G | p.Val489= | synonymous_variant | 10/14 | 1 | |||
FREM1 | ENST00000380875.7 | c.*425T>G | 3_prime_UTR_variant, NMD_transcript_variant | 27/31 | 1 | ||||
FREM1 | ENST00000427623.5 | c.*40T>G | 3_prime_UTR_variant, NMD_transcript_variant | 7/11 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461104Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726880
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at