rs4

Positions:

• chr13-31873085-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The XR_007063748.1(LOC124900336):​n.6775A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0907 in 152,238 control chromosomes in the GnomAD database, including 894 homozygotes. 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: 𝑓 0.091 (894 hom., cov: 32)
• Consequence: LOC124900336 XR_007063748.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0380

Genes affected

LOC124900336 (HGNC:):

FRY (HGNC:20367): (FRY microtubule binding protein) Predicted to enable enzyme inhibitor activity. Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be located in microtubule organizing center and spindle pole. Predicted to be active in cell cortex and site of polarized growth. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.172 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC124900336	XR_007063748.1	n.6775A>G		non_coding_transcript_exon_variant	2/2
EEF1DP3	NR_027062.1	n.157+26146A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
FRY	ENST00000428783.1	n.99+26146A>G		intron_variant, non_coding_transcript_variant		1
FRY	ENST00000645780.1	c.-254+26146A>G		intron_variant				ENSP00000494080

Frequencies

GnomAD3 genomes AF: 0.0906 AC: 13789 AN: 152120 Hom.: 891 Cov.: 32

Gnomad AFR AF: 0.176

Gnomad AMI AF: 0.0428

Gnomad AMR AF: 0.0997

Gnomad ASJ AF: 0.0277

Gnomad EAS AF: 0.0430

Gnomad SAS AF: 0.0544

Gnomad FIN AF: 0.0421

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.0546

Gnomad OTH AF: 0.0833

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0907 AC: 13805 AN: 152238 Hom.: 894 Cov.: 32 AF XY: 0.0882 AC XY: 6567 AN XY: 74436

Gnomad4 AFR AF: 0.176

Gnomad4 AMR AF: 0.0997

Gnomad4 ASJ AF: 0.0277

Gnomad4 EAS AF: 0.0429

Gnomad4 SAS AF: 0.0549

Gnomad4 FIN AF: 0.0421

Gnomad4 NFE AF: 0.0546

Gnomad4 OTH AF: 0.0844

Alfa AF: 0.0758 Hom.: 87

Bravo AF: 0.100

Asia WGS AF: 0.0660 AC: 228 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	1.0
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4; hg19: chr13-32447222;