rs7709828

Variant names:

• chr5-95450438-C-A
• rs7709828
• NM_152548.3:c.*156C>A

Your query was ambiguous. Multiple possible variants found:

• chr5-95450438-C-A
• chr5-95450438-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_152548.3(FAM81B):​c.*156C>A variant causes a 3 prime UTR 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: FAM81B NM_152548.3 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.379
• Publications: 5 publications found

Genes affected

FAM81B (HGNC:26335): (family with sequence similarity 81 member B) Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FAM81B	NM_152548.3	c.*156C>A		3_prime_UTR_variant	Exon 10 of 10	ENST00000283357.10	NP_689761.2
FAM81B	XM_011543209.2	c.*156C>A		3_prime_UTR_variant	Exon 8 of 8		XP_011541511.1
FAM81B	XM_011543210.3	c.*156C>A		3_prime_UTR_variant	Exon 7 of 7		XP_011541512.1
FAM81B	XM_047416823.1	c.*156C>A		3_prime_UTR_variant	Exon 7 of 7		XP_047272779.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FAM81B	ENST00000283357.10	c.*156C>A		3_prime_UTR_variant	Exon 10 of 10	1	NM_152548.3	ENSP00000283357.5

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 14

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 1343

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.80
DANN	Benign	0.50
PhyloP100		-0.38

Splicing

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

Other links and lift over

dbSNP: rs7709828; hg19: chr5-94786142;