7-150369799-G-C

Position:

• chr7-150369799-G-C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2 BP4_Strong BP6_Moderate

The NM_001099695.2(REPIN1):​c.88G>C​(p.Gly30Arg) 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. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

• Frequency: Genomes: not found (cov: 33)
• Consequence: REPIN1 NM_001099695.2 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.81

Genes affected

REPIN1 (HGNC:17922): (replication initiator 1) Enables RNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of glucose import and regulation of fatty acid transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

REPIN1-AS1 (HGNC:41201): (REPIN1 antisense RNA 1)

ZNF775 (HGNC:28501): (zinc finger protein 775) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.051838815).
• BP6: Variant 7-150369799-G-C is Benign according to our data. Variant chr7-150369799-G-C is described in ClinVar as [Likely_benign]. Clinvar id is 3313618.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
REPIN1	NM_001099695.2	c.88G>C	p.Gly30Arg	missense_variant	2/3	ENST00000489432.7
REPIN1-AS1	NR_183429.1	n.333+906C>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
REPIN1	ENST00000489432.7	c.88G>C	p.Gly30Arg	missense_variant	2/3	2	NM_001099695.2	P4
REPIN1-AS1	ENST00000488310.1	n.176+1279C>G		intron_variant, non_coding_transcript_variant		4

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 30

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Benign	-0.31	T
BayesDel_noAF	Benign	-0.69
CADD	Benign	0.49
DANN	Benign	0.82
DEOGEN2	Benign	0.0055	.;.;T;.;T
Eigen	Benign	-1.6
Eigen_PC	Benign	-1.6
FATHMM_MKL	Benign	0.034	N
LIST_S2	Benign	0.57	.;T;T;T;T
M_CAP	Benign	0.0021	T
MetaRNN	Benign	0.052	T;T;T;T;T
MetaSVM	Benign	-0.96	T
MutationTaster	Benign	0.88	D;D;N;N;N;N;N;N
PrimateAI	Benign	0.37	T
PROVEAN	Pathogenic	-5.0	D;N;N;D;N
REVEL	Benign	0.023
Sift	Benign	0.23	T;T;T;T;T
Sift4G	Benign	0.78	T;T;T;T;T
Vest4		0.13
MutPred		0.41		Loss of sheet (P = 0.0483);Loss of sheet (P = 0.0483);.;Loss of sheet (P = 0.0483);.;
MVP		0.068
MPC		0.78
ClinPred		0.094	T
GERP RS		-7.9
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		2.7
gMVP		0.037

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: chr7-150066888;