21-14966851-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003489.4(NRIP1):āc.1342C>Gā(p.Arg448Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0926 in 1,613,906 control chromosomes in the GnomAD database, including 7,528 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003489.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NRIP1 | NM_003489.4 | c.1342C>G | p.Arg448Gly | missense_variant | 4/4 | ENST00000318948.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NRIP1 | ENST00000318948.7 | c.1342C>G | p.Arg448Gly | missense_variant | 4/4 | 2 | NM_003489.4 | P1 | |
NRIP1 | ENST00000400199.5 | c.1342C>G | p.Arg448Gly | missense_variant | 3/3 | 3 | P1 | ||
NRIP1 | ENST00000400202.5 | c.1342C>G | p.Arg448Gly | missense_variant | 3/3 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0702 AC: 10665AN: 152030Hom.: 501 Cov.: 32
GnomAD3 exomes AF: 0.0793 AC: 19926AN: 251244Hom.: 1015 AF XY: 0.0815 AC XY: 11071AN XY: 135788
GnomAD4 exome AF: 0.0949 AC: 138778AN: 1461758Hom.: 7027 Cov.: 35 AF XY: 0.0947 AC XY: 68844AN XY: 727192
GnomAD4 genome AF: 0.0701 AC: 10661AN: 152148Hom.: 501 Cov.: 32 AF XY: 0.0669 AC XY: 4980AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at