1-157544307-A-T

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

The NM_031281.3(FCRL5):​c.799T>A​(p.Tyr267Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y267H) has been classified as Likely benign.

Frequency

Genomes: 𝑓 0.0 ( 0 hom., cov: 33)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

FCRL5
NM_031281.3 missense

Scores

19

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.06
Variant links:
Genes affected
FCRL5 (HGNC:18508): (Fc receptor like 5) This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BP4
Computational evidence support a benign effect (MetaRNN=0.05973175).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
FCRL5NM_031281.3 linkc.799T>A p.Tyr267Asn missense_variant 5/17 ENST00000361835.8 NP_112571.2 Q96RD9-1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
FCRL5ENST00000361835.8 linkc.799T>A p.Tyr267Asn missense_variant 5/171 NM_031281.3 ENSP00000354691.3 Q96RD9-1
FCRL5ENST00000368190.7 linkc.799T>A p.Tyr267Asn missense_variant 5/101 ENSP00000357173.3 Q96RD9-3
FCRL5ENST00000368189.3 linkc.799T>A p.Tyr267Asn missense_variant 5/81 ENSP00000357172.3 Q96RD9-4
FCRL5ENST00000481082.1 linkn.997T>A non_coding_transcript_exon_variant 6/72

Frequencies

GnomAD3 genomes
AF:
0.00
AC:
0
AN:
152022
Hom.:
0
Cov.:
33
FAILED QC
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
1461862
Hom.:
0
Cov.:
57
AF XY:
0.00
AC XY:
0
AN XY:
727228
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
152022
Hom.:
0
Cov.:
33
AF XY:
0.00
AC XY:
0
AN XY:
74242
Gnomad4 AFR
AF:
0.00
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.067
BayesDel_addAF
Benign
-0.32
T
BayesDel_noAF
Benign
-0.69
CADD
Benign
0.010
DANN
Benign
0.51
DEOGEN2
Benign
0.00061
T;.;.
Eigen
Benign
-1.6
Eigen_PC
Benign
-1.6
FATHMM_MKL
Benign
0.018
N
LIST_S2
Benign
0.45
T;T;T
M_CAP
Benign
0.0034
T
MetaRNN
Benign
0.060
T;T;T
MetaSVM
Benign
-0.94
T
MutationAssessor
Benign
-0.26
N;N;N
PrimateAI
Benign
0.28
T
PROVEAN
Benign
0.48
N;N;N
REVEL
Benign
0.013
Sift
Benign
1.0
T;T;T
Sift4G
Benign
0.30
T;T;T
Polyphen
0.012
B;B;B
Vest4
0.14
MutPred
0.48
Gain of disorder (P = 0.0302);Gain of disorder (P = 0.0302);Gain of disorder (P = 0.0302);
MVP
0.12
MPC
0.11
ClinPred
0.046
T
GERP RS
-6.0
Varity_R
0.019
gMVP
0.13

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs6679793; hg19: chr1-157514097; API