rs3769110

Variant names:

• chr2-238329110-A-C
• NM_015650.4:c.683A>C

Your query was ambiguous. Multiple possible variants found:

• chr2-238329110-A-C
• chr2-238329110-A-G
• chr2-238329110-A-T

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_015650.4(TRAF3IP1):​c.683A>C​(p.Asn228Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. N228S) has been classified as Likely benign.

• Frequency: Genomes: not found (cov: 31)
• Consequence: TRAF3IP1 NM_015650.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.658

Genes affected

TRAF3IP1 (HGNC:17861): (TRAF3 interacting protein 1) The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.038938463).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TRAF3IP1	NM_015650.4	c.683A>C	p.Asn228Thr	missense_variant	Exon 5 of 17	ENST00000373327.5	NP_056465.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TRAF3IP1	ENST00000373327.5	c.683A>C	p.Asn228Thr	missense_variant	Exon 5 of 17	1	NM_015650.4	ENSP00000362424.4
TRAF3IP1	ENST00000391993.7	c.683A>C	p.Asn228Thr	missense_variant	Exon 5 of 15	1		ENSP00000375851.3
TRAF3IP1	ENST00000409739.2	n.*552A>C		non_coding_transcript_exon_variant	Exon 5 of 5	3		ENSP00000386648.2
TRAF3IP1	ENST00000409739.2	n.*552A>C		3_prime_UTR_variant	Exon 5 of 5	3		ENSP00000386648.2

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.064
BayesDel_addAF	Benign	-0.38	T
BayesDel_noAF	Benign	-0.78
CADD	Benign	1.7
DANN	Benign	0.35
DEOGEN2	Benign	0.0024	.;T
Eigen	Benign	-1.3
Eigen_PC	Benign	-1.3
FATHMM_MKL	Benign	0.048	N
LIST_S2	Benign	0.15	T;T
M_CAP	Benign	0.00067	T
MetaRNN	Benign	0.039	T;T
MetaSVM	Benign	-0.97	T
MutationAssessor	Benign	0.55	N;N
PrimateAI	Benign	0.38	T
PROVEAN	Benign	-0.30	N;N
REVEL	Benign	0.025
Sift	Benign	0.057	T;T
Sift4G	Benign	0.65	T;T
Polyphen		0.0	B;B
Vest4		0.072
MutPred		0.36		Gain of phosphorylation at N228 (P = 7e-04);Gain of phosphorylation at N228 (P = 7e-04);
MVP		0.048
MPC		0.14
ClinPred		0.045	T
GERP RS		-0.82
Varity_R		0.021
gMVP		0.030

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr2-239237751;