rs12671806

Positions:

• chr7-127507574-A-G

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The XR_007060511.1(LOC105375490):​n.232+1607T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.325 in 152,038 control chromosomes in the GnomAD database, including 10,064 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 0.32 (10064 hom., cov: 32)
• Consequence: LOC105375490 XR_007060511.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.580

Genes affected

LOC105375490 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.34).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.691 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LOC105375490	XR_007060511.1	n.232+1607T>C		intron_variant, non_coding_transcript_variant
LOC105375490	XR_001745351.2	n.2349+1607T>C		intron_variant, non_coding_transcript_variant
LOC105375490	XR_001745352.2	n.551+1607T>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.325 AC: 49342 AN: 151920 Hom.: 10052 Cov.: 32

Gnomad AFR AF: 0.0904

Gnomad AMI AF: 0.400

Gnomad AMR AF: 0.374

Gnomad ASJ AF: 0.268

Gnomad EAS AF: 0.710

Gnomad SAS AF: 0.414

Gnomad FIN AF: 0.462

Gnomad MID AF: 0.223

Gnomad NFE AF: 0.402

Gnomad OTH AF: 0.324

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

GnomAD4 genome AF: 0.325 AC: 49353 AN: 152038 Hom.: 10064 Cov.: 32 AF XY: 0.333 AC XY: 24763 AN XY: 74318

Gnomad4 AFR AF: 0.0902

Gnomad4 AMR AF: 0.374

Gnomad4 ASJ AF: 0.268

Gnomad4 EAS AF: 0.710

Gnomad4 SAS AF: 0.416

Gnomad4 FIN AF: 0.462

Gnomad4 NFE AF: 0.402

Gnomad4 OTH AF: 0.325

Alfa AF: 0.360 Hom.: 1398

Bravo AF: 0.309

Asia WGS AF: 0.507 AC: 1758 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.34
CADD	Benign	16
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12671806; hg19: chr7-127147628;