1-112912805-T-TA

Variant summary

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

The NM_003051.4(SLC16A1):​c.*1085dupT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★★).

Frequency

Genomes: 𝑓 0.0048 ( 1 hom., cov: 32)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

SLC16A1
NM_003051.4 3_prime_UTR

Scores

Not classified

Clinical Significance

Uncertain significance criteria provided, multiple submitters, no conflicts U:2

Conservation

PhyloP100: -0.312
Variant links:
Genes affected
SLC16A1 (HGNC:10922): (solute carrier family 16 member 1) The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SLC16A1NM_003051.4 linkc.*1085dupT 3_prime_UTR_variant Exon 5 of 5 ENST00000369626.8 NP_003042.3 P53985-1A0A024R0H1
SLC16A1NM_001166496.2 linkc.*1085dupT 3_prime_UTR_variant Exon 5 of 5 NP_001159968.1 P53985-1A0A024R0H1B4DKS0
SLC16A1XM_047428789.1 linkc.*1085dupT 3_prime_UTR_variant Exon 5 of 5 XP_047284745.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SLC16A1ENST00000369626 linkc.*1085dupT 3_prime_UTR_variant Exon 5 of 5 1 NM_003051.4 ENSP00000358640.4 P53985-1

Frequencies

GnomAD3 genomes
AF:
0.00
AC:
645
AN:
136222
Hom.:
1
Cov.:
32
FAILED QC
Gnomad AFR
AF:
0.00656
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00519
Gnomad ASJ
AF:
0.00187
Gnomad EAS
AF:
0.00270
Gnomad SAS
AF:
0.00804
Gnomad FIN
AF:
0.00694
Gnomad MID
AF:
0.00690
Gnomad NFE
AF:
0.00349
Gnomad OTH
AF:
0.00165
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
2
Hom.:
0
Cov.:
0
AF XY:
0.00
AC XY:
0
AN XY:
2
Gnomad4 NFE exome
AF:
0.00
GnomAD4 genome
Data not reliable, filtered out with message: AS_VQSR
AF:
0.00476
AC:
649
AN:
136254
Hom.:
1
Cov.:
32
AF XY:
0.00524
AC XY:
345
AN XY:
65888
show subpopulations
Gnomad4 AFR
AF:
0.00668
Gnomad4 AMR
AF:
0.00526
Gnomad4 ASJ
AF:
0.00187
Gnomad4 EAS
AF:
0.00229
Gnomad4 SAS
AF:
0.00808
Gnomad4 FIN
AF:
0.00694
Gnomad4 NFE
AF:
0.00349
Gnomad4 OTH
AF:
0.00164

ClinVar

Significance: Uncertain significance
Submissions summary: Uncertain:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

not provided Uncertain:1
-
Breakthrough Genomics, Breakthrough Genomics
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: not provided

- -

Hyperinsulinism, Dominant Uncertain:1
Jun 14, 2016
Illumina Laboratory Services, Illumina
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs886045060; hg19: chr1-113455427; API