rs708017

Variant names:

• chr6-37028997-C-A
• rs708017
• NM_173558.4:c.*834C>A

Your query was ambiguous. Multiple possible variants found:

• chr6-37028997-C-A
• chr6-37028997-C-G
• chr6-37028997-C-T

Variant summary

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

The NM_173558.4(FGD2):​c.*834C>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: 28)
• Consequence: FGD2 NM_173558.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.771

Genes affected

FGD2 (HGNC:3664): (FYVE, RhoGEF and PH domain containing 2) The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]

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 (BayesDel_noAF=-0.89).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FGD2	NM_173558.4	c.*834C>A		3_prime_UTR_variant	Exon 16 of 16	ENST00000274963.13	NP_775829.2
FGD2	XM_047418333.1	c.*834C>A		3_prime_UTR_variant	Exon 13 of 13		XP_047274289.1
FGD2	XM_047418334.1	c.*834C>A		3_prime_UTR_variant	Exon 11 of 11		XP_047274290.1
FGD2	XM_047418335.1	c.*834C>A		3_prime_UTR_variant	Exon 9 of 9		XP_047274291.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FGD2	ENST00000274963.13	c.*834C>A		3_prime_UTR_variant	Exon 16 of 16	1	NM_173558.4	ENSP00000274963.8
FGD2	ENST00000487920.1	n.2545C>A		non_coding_transcript_exon_variant	Exon 3 of 3	2
FGD2	ENST00000494343.5	n.2859C>A		non_coding_transcript_exon_variant	Exon 12 of 12	5

Frequencies

GnomAD3 genomes Cov.: 28

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 28

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.71
DANN	Benign	0.32

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: rs708017; hg19: chr6-36996773;