rs1210344444

Variant names:

• chr8-12428724-G-C
• rs1210344444
• NM_001137610.3:c.651C>G

Your query was ambiguous. Multiple possible variants found:

• chr8-12428724-G-C
• chr8-12428724-G-T

Variant summary

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

The NM_001137610.3(FAM86B2):​c.651C>G​(p.Asp217Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 19)
  • Exomes 𝑓: 8.8e-7 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: FAM86B2 NM_001137610.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.250

Genes affected

FAM86B2 (HGNC:32222): (family with sequence similarity 86 member B2) Predicted to enable methyltransferase activity. Predicted to be involved in methylation. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (MetaRNN=0.044837862).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FAM86B2	NM_001137610.3	c.651C>G	p.Asp217Glu	missense_variant	Exon 6 of 8	ENST00000262365.9	NP_001131082.1
FAM86B2	NR_148876.2	n.431+257C>G		intron_variant	Intron 4 of 5
FAM86B2	NR_148877.2	n.350+257C>G		intron_variant	Intron 3 of 4
FAM86B2	NR_148878.2	n.631+257C>G		intron_variant	Intron 5 of 6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FAM86B2	ENST00000262365.9	c.651C>G	p.Asp217Glu	missense_variant	Exon 6 of 8	5	NM_001137610.3	ENSP00000262365.4

Frequencies

GnomAD3 genomes Cov.: 19

GnomAD3 exomes AF: 0.00000838 AC: 1 AN: 119302 Hom.: 0 AF XY: 0.0000157 AC XY: 1 AN XY: 63532

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.00

Gnomad SAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.0000196

Gnomad OTH exome AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 8.75e-7 AC: 1 AN: 1142590 Hom.: 0 Cov.: 28 AF XY: 0.00000176 AC XY: 1 AN XY: 569468

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: 0.00000115

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 19

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.11
BayesDel_addAF	Benign	-0.45	T
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.67
DANN	Benign	0.91
DEOGEN2	Benign	0.0015	T;.
Eigen	Benign	-1.2
Eigen_PC	Benign	-1.3
FATHMM_MKL	Benign	0.0029	N
LIST_S2	Benign	0.35	T;T
M_CAP	Benign	0.00085	T
MetaRNN	Benign	0.045	T;T
MetaSVM	Benign	-0.91	T
MutationAssessor	Benign	-0.17	N;.
PrimateAI	Uncertain	0.53	T
PROVEAN	Benign	-0.69	N;N
REVEL	Benign	0.010
Sift	Benign	0.51	T;T
Sift4G	Benign	0.39	T;T
Polyphen		0.0	B;.
Vest4		0.061
MutPred		0.39		Gain of disorder (P = 0.1738);.;
MVP		0.043
MPC		1.9
ClinPred		0.018	T
GERP RS		0.17
Varity_R		0.033
gMVP		0.21

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

LitVar

Other links and lift over

dbSNP: rs1210344444; hg19: chr8-12286233;