rs3973727

Variant names:

• chr11-59831479-TTATATATATATATATA-T
• NM_005142.3:c.1192+183_1192+198delTATATATATATATATA

Your query was ambiguous. Multiple possible variants found:

• chr11-59831479-TTATATATATATATATA-T
• chr11-59831479-TTATATATATATATATA-TTATATATA
• chr11-59831479-TTATATATATATATATA-TTATATATATA
• chr11-59831479-TTATATATATATATATA-TTATATATATATA
• chr11-59831479-TTATATATATATATATA-TTATATATATATATA
• chr11-59831479-TTATATATATATATATA-TTATATATATATATATATA
• chr11-59831479-TTATATATATATATATA-TTATATATATATATATATATA
• chr11-59831479-TTATATATATATATATA-TTATATATATATATATATATATA

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_005142.3(CBLIF):​c.1192+183_1192+198delTATATATATATATATA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000165 in 60,642 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 27)
  • Exomes 𝑓: 0.000016 (0 hom.)
• Consequence: CBLIF NM_005142.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.363

Genes affected

CBLIF (HGNC:4268): (cobalamin binding intrinsic factor) This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CBLIF	NM_005142.3	c.1192+183_1192+198delTATATATATATATATA		intron_variant	Intron 8 of 8	ENST00000257248.3	NP_005133.2
CBLIF	XM_011544939.4	c.1150+183_1150+198delTATATATATATATATA		intron_variant	Intron 8 of 8		XP_011543241.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CBLIF	ENST00000257248.3	c.1192+183_1192+198delTATATATATATATATA		intron_variant	Intron 8 of 8	1	NM_005142.3	ENSP00000257248.2
CBLIF	ENST00000525058.5	n.*1159+183_*1159+198delTATATATATATATATA		intron_variant	Intron 8 of 8	2		ENSP00000433196.1
CBLIF	ENST00000533067.1	n.*36_*51delTATATATATATATATA		downstream_gene_variant		3

Frequencies

GnomAD3 genomes Cov.: 27

GnomAD4 exome AF: 0.0000165 AC: 1 AN: 60642 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 35556

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.000274

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 27

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr11-59598952;