6-75087281-GA-G

Position:

• chr6-75087281-GA-G

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_004370.6(COL12A1):​c.9181+295del variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.98 (72146 hom., cov: 0)
  • Exomes 𝑓: 0.90 (62277 hom.)
• Consequence: COL12A1 NM_004370.6 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.554

Genes affected

COL12A1 (HGNC:2188): (collagen type XII alpha 1 chain) This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 6-75087281-GA-G is Benign according to our data. Variant chr6-75087281-GA-G is described in ClinVar as [Benign]. Clinvar id is 1262224.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.985 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
COL12A1	NM_004370.6	c.9181+295del		intron_variant		ENST00000322507.13

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
COL12A1	ENST00000322507.13	c.9181+295del		intron_variant		1	NM_004370.6	P4

Frequencies

GnomAD3 genomes AF: 0.978 AC: 147405 AN: 150698 Hom.: 72095 Cov.: 0

Gnomad AFR AF: 0.993

Gnomad AMI AF: 0.962

Gnomad AMR AF: 0.985

Gnomad ASJ AF: 0.972

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.974

Gnomad FIN AF: 0.964

Gnomad MID AF: 0.984

Gnomad NFE AF: 0.969

Gnomad OTH AF: 0.971

GnomAD4 exome AF: 0.902 AC: 139426 AN: 154574 Hom.: 62277 Cov.: 0 AF XY: 0.901 AC XY: 70492 AN XY: 78266

Gnomad4 AFR exome AF: 0.934

Gnomad4 AMR exome AF: 0.920

Gnomad4 ASJ exome AF: 0.907

Gnomad4 EAS exome AF: 0.938

Gnomad4 SAS exome AF: 0.875

Gnomad4 FIN exome AF: 0.894

Gnomad4 NFE exome AF: 0.896

Gnomad4 OTH exome AF: 0.903

GnomAD4 genome AF: 0.978 AC: 147508 AN: 150802 Hom.: 72146 Cov.: 0 AF XY: 0.979 AC XY: 72018 AN XY: 73592

Gnomad4 AFR AF: 0.993

Gnomad4 AMR AF: 0.985

Gnomad4 ASJ AF: 0.972

Gnomad4 EAS AF: 0.999

Gnomad4 SAS AF: 0.974

Gnomad4 FIN AF: 0.964

Gnomad4 NFE AF: 0.969

Gnomad4 OTH AF: 0.971

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Aug 10, 2019

- -

Computational scores

Source: dbNSFP v4.3

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: rs11289042; hg19: chr6-75796997;